G9D (p.Gly9Asp) variant of MSH3 (DNA mismatch repair protein Msh3)
G9D (p.Gly9Asp) 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 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
G9D (p.Gly9Asp) variant details
- p.Gly9Asp
- rs369278563
- ClinGen CA3327421
- ClinVar RCV000797567
- ClinVar RCV002440650
- Uncertain significance
- not provided; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.214
- REVEL 0.11
- CADD 19.80
- PolyPhen-2 0.01
- SIFT 0.05
- ClinVar: Uncertain significance (not provided; Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 9.7e-05)
- 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)