V20M (p.Val20Met) variant of MSH2 (DNA mismatch repair protein Msh2)
V20M (p.Val20Met) in MSH2 (DNA mismatch repair protein Msh2) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
V20M (p.Val20Met) variant details
- p.Val20Met
- rs1198168331
- ClinGen CA346728601
- ClinVar RCV000580093
- ClinVar RCV001359880
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.627
- REVEL 0.58
- ESM-1b 1.00
- AlphaMissense 0.40
- MetaLR 0.66
- MetaSVM 0.35
- CADD 26.30
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- 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)
- Cited in: Practice parameters for the identification and testing of patients at risk for dominantly inherited colorectal… (PMID 11598466)