G10A (p.Gly10Ala) variant of MSH3 (DNA mismatch repair protein Msh3)
G10A (p.Gly10Ala) 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 0.46 / 1. The record also includes published literature and structural context.
G10A (p.Gly10Ala) variant details
- p.Gly10Ala
- rs1580537703
- ClinGen CA360264824
- ClinVar RCV001017899
- ClinVar RCV003688895
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.456
- AlphaMissense 0.08
- MetaLR 0.52
- MetaSVM -0.57
- PolyPhen-2 0.01
- SIFT 0.05
- MutPred 0.12
- 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)