G426R (p.Gly426Arg) variant of MSH2 (DNA mismatch repair protein Msh2)
G426R (p.Gly426Arg) 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 Lynch syndrome 1; Muir-Torré syndrome; Mismatch repair cancer syndrome 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes published literature and structural context.
G426R (p.Gly426Arg) variant details
- p.Gly426Arg
- rs879254234
- ClinGen CA10584213
- ClinVar RCV000236876
- ClinVar RCV001061266
- Likely pathogenic
- Lynch syndrome 1; Muir-Torré syndrome; Mismatch repair cancer syndrome 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.84
- ESM-1b 1.00
- AlphaMissense 0.65
- ClinVar: Likely pathogenic (Lynch syndrome 1; Muir-Torré syndrome; Mismatch repair cancer sy)
- EBI: Pathogenic
- UniProt: Pathogenic
- 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)