V42D (p.Val42Asp) variant of PMS1 (PMS1 protein homolog 1)
V42D (p.Val42Asp) in PMS1 (PMS1 protein homolog 1) is a missense change. The record also includes experimental measurements and structural context.
V42D (p.Val42Asp) variant details
- p.Val42Asp
- Ensembl rs2106213460
- Missense
- Structural context available
- PMS1 High mobility group box domain domainome 1.0: score -1.2