C12W (p.Cys12Trp) variant of ATM (Serine-protein kinase ATM)
C12W (p.Cys12Trp) in ATM (Serine-protein kinase ATM) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
C12W (p.Cys12Trp) variant details
- p.Cys12Trp
- Ensembl rs2135005147
- Pathogenic
- Missense
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available