V31G (p.Val31Gly) variant of PMS2 (P54278)
V31G (p.Val31Gly) 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 available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes published literature and structural context.
V31G (p.Val31Gly) variant details
- p.Val31Gly
- rs2128845590
- ClinGen CA366745075
- ClinVar RCV002371544
- Ensembl rs2128845590
- Uncertain significance
- 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 (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)