D34V (p.Asp34Val) variant of PMS1 (PMS1 protein homolog 1)
D34V (p.Asp34Val) in PMS1 (PMS1 protein homolog 1) is a missense change. The record also includes experimental measurements and structural context.
D34V (p.Asp34Val) variant details
- p.Asp34Val
- TOPMed rs2048902100
- Missense
- Structural context available
- PMS1 High mobility group box domain domainome 1.0: score -0.467