A20V (p.Ala20Val) variant of ATM (Serine-protein kinase ATM)
A20V (p.Ala20Val) in ATM (Serine-protein kinase ATM) is a missense change. Clinical records from EBI and UniProt describe it as likely pathogenic. The record also includes structural context.
A20V (p.Ala20Val) variant details
- p.Ala20Val
- Ensembl rs2078809726
- Likely pathogenic
- Missense
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available