L440R (p.Leu440Arg) variant of MSH2 (DNA mismatch repair protein Msh2)
L440R (p.Leu440Arg) in MSH2 (DNA mismatch repair protein Msh2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Hereditary nonpolyposis colorectal neoplasms; Hereditary cancer-predisposing syn. The available variant effect predictions contribute to a CATVariant prioritization score of 0.99 / 1. The record also includes published literature and structural context.
L440R (p.Leu440Arg) variant details
- p.Leu440Arg
- rs587779084
- ClinGen CA346724614
- ClinVar RCV002028795
- ClinVar RCV003170566
- Likely pathogenic
- Hereditary nonpolyposis colorectal neoplasms; Hereditary cancer-predisposing syn
- Missense
- Variant Prioritization Score for Impact Estimate 0.988
- ESM-1b 1.00
- AlphaMissense 0.97
- ClinVar: Likely pathogenic (Hereditary nonpolyposis colorectal neoplasms; Hereditary cancer-)
- EBI: Pathogenic (in LYNCH1)
- UniProt: Pathogenic (in LYNCH1)
- 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)