C129R (p.Cys129Arg) variant of KRIT1 (O00522)
C129R (p.Cys129Arg) in KRIT1 (O00522) is a missense change. The record also includes structural context.
C129R (p.Cys129Arg) variant details
- p.Cys129Arg
- Ensembl rs1278724570
- Missense
- Structural context available