V3L (p.Val3Leu) variant of MSH2 (DNA mismatch repair protein Msh2)
V3L (p.Val3Leu) in MSH2 (DNA mismatch repair protein Msh2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Lynch syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
V3L (p.Val3Leu) variant details
- p.Val3Leu
- rs1257347271
- ClinGen CA346728406
- ClinVar RCV000774955
- ClinVar RCV000781996
- Likely benign
- Lynch syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.437
- REVEL 0.37
- ESM-1b 0.00
- AlphaMissense 0.29
- MetaLR 0.49
- MetaSVM -0.25
- CADD 23.00
- ClinVar: Likely benign (Hereditary cancer-predisposing syndrome)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:PATHAN population (allele frequency 0.083)
- 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)