A12G (p.Ala12Gly) variant of PMS2 (P54278)
A12G (p.Ala12Gly) in PMS2 (P54278) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
A12G (p.Ala12Gly) variant details
- p.Ala12Gly
- Ensembl rs1562702377
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available