H24D (p.His24Asp) variant of PMS2 (P54278)
H24D (p.His24Asp) in PMS2 (P54278) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
H24D (p.His24Asp) variant details
- p.His24Asp
- Ensembl rs2128846151
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available