A7G (p.Ala7Gly) variant of MSH3 (DNA mismatch repair protein Msh3)
A7G (p.Ala7Gly) 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 not provided; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes published literature and structural context.
A7G (p.Ala7Gly) variant details
- p.Ala7Gly
- rs1580537658
- ClinGen CA360264797
- ClinVar RCV000805858
- ClinVar RCV004028227
- Uncertain significance
- not provided; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.441
- AlphaMissense 0.10
- MetaLR 0.41
- MetaSVM -0.62
- PolyPhen-2 0.54
- SIFT 0.02
- MutPred 0.09
- ClinVar: Uncertain significance (not provided; 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)