A12V (p.Ala12Val) variant of MSH3 (DNA mismatch repair protein Msh3)
A12V (p.Ala12Val) 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 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
A12V (p.Ala12Val) variant details
- p.Ala12Val
- rs969715234
- ClinGen CA360264842
- ClinVar RCV001053269
- ClinVar RCV002451221
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.398
- REVEL 0.16
- CADD 15.30
- PolyPhen-2 0.01
- SIFT 0.03
- 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 9e-07)
- 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)