R1095T (p.Arg1095Thr) variant of ATM (Serine-protein kinase ATM)
R1095T (p.Arg1095Thr) in ATM (Serine-protein kinase ATM) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of ATM-related cancer predisposition. The record also includes structural context.
R1095T (p.Arg1095Thr) variant details
- p.Arg1095Thr
- ExAC rs587781815
- gnomAD rs587781815
- Likely pathogenic
- ATM-related cancer predisposition
- Missense
- ClinVar: Likely pathogenic (ATM-related cancer predisposition)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available