R359I (p.Arg359Ile) variant of MSH2 (DNA mismatch repair protein Msh2)
R359I (p.Arg359Ile) 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.
R359I (p.Arg359Ile) variant details
- p.Arg359Ile
- rs63751604
- ClinGen CA46687382
- ClinVar RCV001377641
- ClinVar RCV002420851
- Likely pathogenic
- Hereditary nonpolyposis colorectal neoplasms; Hereditary cancer-predisposing syn
- Missense
- Variant Prioritization Score for Impact Estimate 0.993
- ESM-1b 1.00
- AlphaMissense 0.98
- 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)