H24N (p.His24Asn) variant of PMS2 (P54278)
H24N (p.His24Asn) in PMS2 (P54278) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
H24N (p.His24Asn) variant details
- p.His24Asn
- Ensembl rs2128846151
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available