S28C (p.Ser28Cys) variant of PMS2 (P54278)
S28C (p.Ser28Cys) in PMS2 (P54278) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
S28C (p.Ser28Cys) variant details
- p.Ser28Cys
- cosmic curated COSV10584
- Ensembl rs1785707505
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available