L3V (p.Leu3Val) variant of ATM (Serine-protein kinase ATM)
L3V (p.Leu3Val) in ATM (Serine-protein kinase ATM) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The record also includes structural context.
L3V (p.Leu3Val) variant details
- p.Leu3Val
- Ensembl rs7112053
- Likely benign
- Missense
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available