V17L (p.Val17Leu) variant of MSH2 (DNA mismatch repair protein Msh2)
V17L (p.Val17Leu) 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 Hereditary nonpolyposis colorectal neoplasms; Hereditary cancer-predisposing syn. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
V17L (p.Val17Leu) variant details
- p.Val17Leu
- rs63750966
- ClinGen CA346728564
- ClinVar RCV000629710
- ClinVar RCV003162789
- Conflicting interpretations
- Hereditary nonpolyposis colorectal neoplasms; Hereditary cancer-predisposing syn
- Missense
- Variant Prioritization Score for Impact Estimate 0.277
- REVEL 0.29
- ESM-1b 0.00
- AlphaMissense 0.13
- MetaLR 0.46
- MetaSVM -0.51
- CADD 11.80
- ClinVar: Conflicting classifications of pathogenicity (Hereditary nonpolyposis colorectal neoplasms; Hereditary cancer-)
- EBI: Likely benign (in gastric cancer)
- UniProt: Likely benign (in gastric cancer)
- Most common in the HGDP:BANTUKENYA population (allele frequency 0.2)
- 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)