G31S (p.Gly31Ser) variant of MSH6 (DNA mismatch repair protein Msh6)
G31S (p.Gly31Ser) in MSH6 (DNA mismatch repair protein Msh6) 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 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
G31S (p.Gly31Ser) variant details
- p.Gly31Ser
- rs2530316571
- ClinGen CA2580066983
- ClinVar RCV002378652
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.195
- REVEL 0.08
- MetaLR 0.37
- MetaSVM -0.73
- CADD 15.20
- PolyPhen-2 0.00
- SIFT 0.48
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the 1KG:GIH population (allele frequency 0.0053)
- 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)