A17G (p.Ala17Gly) variant of MSH3 (DNA mismatch repair protein Msh3)
A17G (p.Ala17Gly) in MSH3 (DNA mismatch repair protein Msh3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes published literature and structural context.
A17G (p.Ala17Gly) variant details
- p.Ala17Gly
- rs1749189749
- ClinGen CA360265133
- ClinVar RCV001066125
- ClinVar RCV004944840
- Conflicting interpretations
- not provided; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.424
- AlphaMissense 0.09
- MetaLR 0.38
- MetaSVM -0.80
- PolyPhen-2 0.00
- SIFT 0.38
- MutPred 0.10
- ClinVar: Conflicting classifications of pathogenicity (not provided; Hereditary cancer-predisposing syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- 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)