G10S (p.Gly10Ser) variant of MSH3 (DNA mismatch repair protein Msh3)
G10S (p.Gly10Ser) 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 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
G10S (p.Gly10Ser) variant details
- p.Gly10Ser
- rs2112796965
- ClinGen CA360264820
- ClinVar RCV002259246
- ClinVar RCV003738170
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.248
- REVEL 0.13
- AlphaMissense 0.22
- MetaLR 0.56
- MetaSVM -0.48
- CADD 13.20
- PolyPhen-2 0.03
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- 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)