E10Q (p.Glu10Gln) variant of PMS2 (P54278)
E10Q (p.Glu10Gln) in PMS2 (P54278) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes population frequency data and structural context.
E10Q (p.Glu10Gln) variant details
- p.Glu10Gln
- Ensembl rs2128847171
- Pathogenic
- Missense
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available