L130I (p.Leu130Ile) variant of GBA1 (P04062)
L130I (p.Leu130Ile) in GBA1 (P04062) is a missense change. The record also includes structural context.
L130I (p.Leu130Ile) variant details
- p.Leu130Ile
- TOPMed rs1671971157
- Missense
- Structural context available