L130V (p.Leu130Val) variant of GBA1 (P04062)
L130V (p.Leu130Val) in GBA1 (P04062) is a missense change. The record also includes structural context.
L130V (p.Leu130Val) variant details
- p.Leu130Val
- cosmic curated COSV59170
- Missense
- Structural context available