S34C (p.Ser34Cys) variant of PMS2 (P54278)
S34C (p.Ser34Cys) in PMS2 (P54278) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
S34C (p.Ser34Cys) variant details
- p.Ser34Cys
- Ensembl rs730881912
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available