S2C (p.Ser2Cys) variant of ATM (Serine-protein kinase ATM)
S2C (p.Ser2Cys) in ATM (Serine-protein kinase ATM) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
S2C (p.Ser2Cys) variant details
- p.Ser2Cys
- Ensembl rs1591445677
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available