G10R (p.Gly10Arg) variant of MSH3 (DNA mismatch repair protein Msh3)
G10R (p.Gly10Arg) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes published literature and structural context.
G10R (p.Gly10Arg) variant details
- p.Gly10Arg
- rs2112796965
- ClinGen CA360264819
- ClinVar RCV001918400
- ClinVar RCV002441017
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.488
- AlphaMissense 0.22
- MetaLR 0.56
- MetaSVM -0.48
- PolyPhen-2 0.03
- SIFT 0.01
- MutPred 0.25
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; not provided)
- 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)