V695M (p.Val695Met) variant of MSH2 (DNA mismatch repair protein Msh2)
V695M (p.Val695Met) in MSH2 (DNA mismatch repair protein Msh2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Lynch syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes published literature and structural context.
V695M (p.Val695Met) variant details
- p.Val695Met
- rs772491283
- ClinGen CA346729205
- ClinVar RCV000781997
- ClinVar RCV001014369
- Pathogenic
- Lynch syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.861
- ESM-1b 1.00
- AlphaMissense 0.81
- MetaLR 0.86
- MetaSVM 0.86
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Lynch syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- 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)