H24Y (p.His24Tyr) variant of PMS2 (P54278)
H24Y (p.His24Tyr) in PMS2 (P54278) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome. The record also includes structural context.
H24Y (p.His24Tyr) variant details
- p.His24Tyr
- NCI-TCGA Cosmic COSV5615
- cosmic curated COSV56151
- Ensembl rs2128846151
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available