V31E (p.Val31Glu) variant of PMS2 (P54278)
V31E (p.Val31Glu) in PMS2 (P54278) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
V31E (p.Val31Glu) variant details
- p.Val31Glu
- Ensembl rs2128845590
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available