V32A (p.Val32Ala) variant of PMS2 (P54278)
V32A (p.Val32Ala) in PMS2 (P54278) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary nonpolyposis colorectal neoplasms; Hereditary cancer-predisposing syn. The record also includes published literature and structural context.
V32A (p.Val32Ala) variant details
- p.Val32Ala
- rs2536587189
- ClinGen CA366745071
- ClinVar RCV002385297
- ClinVar RCV003594250
- Uncertain significance
- Hereditary nonpolyposis colorectal neoplasms; Hereditary cancer-predisposing syn
- Missense
- ClinVar: Uncertain significance (Hereditary nonpolyposis colorectal neoplasms; Hereditary cancer-)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)