SIFT | PolyPhen 2 | Mutation taster Phylop | |
---|---|---|---|
ATM | |||
c.6067G > A; G2023R | damaging; 0.03 | benign,0.340 | disease causing base on • amino acid sequence changed • heterozygous in tgp or exac • protein features (might be) affected |
c.6095G > A; R2032K | tolerated; 0.1 | possibly damaging with a score of 0.859 | disease causing base on • amino acid sequence changed • known disease mutation at this position (hgmd cm990215) • known disease mutation at this position (hgmd cs961479) • known disease mutation: rs139770721 (pathogenic) • protein features (might be) affected • splice site changes |
c.8187A > T; Q2729H | damaging; 0 | probably damaging with a score of 1.000 | disease causing base on • amino acid sequence changed • protein features (might be) affected • splice site changes |
c.8314G > A; G2772R | damaging; 0.04 | probably damaging with a score of 0.998 | disease causing base on • amino acid sequence changed • protein features (might be) affected • splice site changes |
c.6083A > G; Q2028R | damaging; 0.03 | benign with a score of 0.232 | polymorphism base on • amino acid sequence changed • protein features (might be) affected • splice site changes |
c.8787-55C > T | intronic variant | polymorphism base on • homozygous in TGP or ExAC |