G9A (p.Gly9Ala) variant of MSH3 (DNA mismatch repair protein Msh3)
G9A (p.Gly9Ala) 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 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
G9A (p.Gly9Ala) variant details
- p.Gly9Ala
- rs369278563
- ClinGen CA360264814
- ClinVar RCV001205984
- ClinVar RCV002451437
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.192
- REVEL 0.08
- CADD 19.00
- PolyPhen-2 0.01
- SIFT 0.01
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.4e-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)