A14P (p.Ala14Pro) variant of PMS2 (P54278)
A14P (p.Ala14Pro) in PMS2 (P54278) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
A14P (p.Ala14Pro) variant details
- p.Ala14Pro
- Ensembl rs876661039
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available