R20M (p.Arg20Met) variant of MSH3 (DNA mismatch repair protein Msh3)
R20M (p.Arg20Met) in MSH3 (DNA mismatch repair protein Msh3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes published literature and structural context.
R20M (p.Arg20Met) variant details
- p.Arg20Met
- rs1580537787
- ClinGen CA360265159
- ClinVar RCV002357956
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.483
- AlphaMissense 0.09
- MetaLR 0.53
- MetaSVM 0.05
- PolyPhen-2 0.53
- SIFT 0.05
- MutPred 0.34
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)