V31A (p.Val31Ala) variant of PMS2 (P54278)
V31A (p.Val31Ala) in PMS2 (P54278) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes published literature and structural context.
V31A (p.Val31Ala) variant details
- p.Val31Ala
- rs2128845590
- ClinGen CA366745076
- cosmic curated COSV10941
- ClinVar RCV002371541
- Uncertain significance
- not provided; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.694
- AlphaMissense 0.84
- MetaLR 0.60
- MetaSVM 0.32
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.95
- ClinVar: Uncertain significance (not provided; Hereditary cancer-predisposing syndrome)
- 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)