D100V (p.Asp100Val) variant of KRIT1 (O00522)
D100V (p.Asp100Val) in KRIT1 (O00522) is a missense change. The record also includes structural context.
D100V (p.Asp100Val) variant details
- p.Asp100Val
- TOPMed rs1420680753
- gnomAD rs1420680753
- Missense
- Structural context available