E10K (p.Glu10Lys) variant of PMS2 (P54278)
E10K (p.Glu10Lys) in PMS2 (P54278) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
E10K (p.Glu10Lys) variant details
- p.Glu10Lys
- Ensembl rs2128847171
- Pathogenic
- Missense
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available