L9V (p.Leu9Val) variant of MSH2 (DNA mismatch repair protein Msh2)
L9V (p.Leu9Val) 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 0.74 / 1. The record also includes published literature and structural context.
L9V (p.Leu9Val) variant details
- p.Leu9Val
- rs1672231681
- ClinGen CA346728469
- ClinVar RCV001323925
- ClinVar RCV004570786
- Conflicting interpretations
- Hereditary nonpolyposis colorectal neoplasms; Hereditary cancer-predisposing syn
- Missense
- Variant Prioritization Score for Impact Estimate 0.735
- ESM-1b 1.00
- AlphaMissense 0.15
- MetaLR 0.80
- MetaSVM 0.64
- PolyPhen-2 0.97
- SIFT 0.09
- ClinVar: Conflicting classifications of pathogenicity (Hereditary nonpolyposis colorectal neoplasms; Hereditary cancer-)
- EBI: Likely benign
- UniProt: Likely benign
- 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)