K72N (p.Lys72Asn) variant of PMS1 (PMS1 protein homolog 1)
K72N (p.Lys72Asn) in PMS1 (PMS1 protein homolog 1) is a missense change. The record also includes structural context.
K72N (p.Lys72Asn) variant details
- p.Lys72Asn
- Ensembl rs2106233426
- Missense
- Structural context available