R1095I (p.Arg1095Ile) variant of ATM (Serine-protein kinase ATM)
R1095I (p.Arg1095Ile) 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 Familial cancer of breast. The record also includes structural context.
R1095I (p.Arg1095Ile) variant details
- p.Arg1095Ile
- ExAC rs587781815
- gnomAD rs587781815
- Likely pathogenic
- Familial cancer of breast
- Missense
- ClinVar: Likely pathogenic (Familial cancer of breast)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available