S6G (p.Ser6Gly) variant of PMS2 (P54278)
S6G (p.Ser6Gly) in PMS2 (P54278) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
S6G (p.Ser6Gly) variant details
- p.Ser6Gly
- Ensembl rs1786254768
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available