V20A (p.Val20Ala) variant of MSH2 (DNA mismatch repair protein Msh2)
V20A (p.Val20Ala) in MSH2 (DNA mismatch repair protein Msh2) 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.
V20A (p.Val20Ala) variant details
- p.Val20Ala
- rs2103870459
- ClinGen CA346728609
- ClinVar RCV003350721
- Ensembl rs2103870459
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.693
- ESM-1b 1.00
- AlphaMissense 0.39
- MetaLR 0.70
- MetaSVM 0.46
- PolyPhen-2 0.58
- SIFT 0.02
- 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)