L9R (p.Leu9Arg) variant of MSH2 (DNA mismatch repair protein Msh2)
L9R (p.Leu9Arg) 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 0.81 / 1. The record also includes published literature and structural context.
L9R (p.Leu9Arg) variant details
- p.Leu9Arg
- rs1573422744
- ClinGen CA346728475
- ClinVar RCV000817588
- ClinVar RCV003307535
- Conflicting interpretations
- Hereditary nonpolyposis colorectal neoplasms; Hereditary cancer-predisposing syn
- Missense
- Variant Prioritization Score for Impact Estimate 0.807
- ESM-1b 1.00
- AlphaMissense 0.31
- MetaLR 0.86
- MetaSVM 0.91
- PolyPhen-2 0.99
- SIFT 0.00
- 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)