N46K (p.Asn46Lys) variant of PMS1 (PMS1 protein homolog 1)
N46K (p.Asn46Lys) in PMS1 (PMS1 protein homolog 1) is a missense change. The record also includes experimental measurements and structural context.
N46K (p.Asn46Lys) variant details
- p.Asn46Lys
- Ensembl rs2106232835
- Missense
- Structural context available
- PMS1 High mobility group box domain domainome 1.0: score -1.68