V23A (p.Val23Ala) variant of PMS2 (P54278)
V23A (p.Val23Ala) in PMS2 (P54278) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
V23A (p.Val23Ala) variant details
- p.Val23Ala
- Ensembl rs1060503114
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available