V3M (p.Val3Met) variant of MSH2 (DNA mismatch repair protein Msh2)
V3M (p.Val3Met) in MSH2 (DNA mismatch repair protein Msh2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Lynch syndrome; Hereditary nonpolyposis colorectal neoplasms; Hereditary cancer. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
V3M (p.Val3Met) variant details
- p.Val3Met
- rs1257347271
- ClinGen CA346728404
- ClinVar RCV000706952
- ClinVar RCV000776681
- Conflicting interpretations
- Lynch syndrome; Hereditary nonpolyposis colorectal neoplasms; Hereditary cancer
- Missense
- Variant Prioritization Score for Impact Estimate 0.583
- REVEL 0.48
- ESM-1b 0.60
- AlphaMissense 0.58
- MetaLR 0.69
- MetaSVM 0.45
- CADD 24.90
- ClinVar: Conflicting classifications of pathogenicity (Lynch syndrome; Hereditary nonpolyposis colorectal neoplasms; He)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:ADYGEI population (allele frequency 0.088)
- 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)