I120V (p.Ile120Val) variant of PKD1 (Polycystin-1)
I120V (p.Ile120Val) in PKD1 (Polycystin-1) is a missense change. The record also includes structural context.
I120V (p.Ile120Val) variant details
- p.Ile120Val
- TOPMed rs2092683472
- Missense
- Structural context available