K13N (p.Lys13Asn) variant of PMS2 (P54278)
K13N (p.Lys13Asn) in PMS2 (P54278) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The record also includes structural context.
K13N (p.Lys13Asn) variant details
- p.Lys13Asn
- Ensembl rs2128846889
- Likely benign
- Missense
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available