A25V (p.Ala25Val) variant of MSH6 (DNA mismatch repair protein Msh6)
A25V (p.Ala25Val) in MSH6 (DNA mismatch repair protein Msh6) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
A25V (p.Ala25Val) variant details
- p.Ala25Val
- rs35462442
- ClinGen CA016416
- ClinVar RCV000160737
- ClinVar RCV001187162
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.216
- REVEL 0.09
- MetaLR 0.33
- MetaSVM -0.81
- CADD 9.75
- PolyPhen-2 0.00
- SIFT 0.84
- EBI: Variant of uncertain significance (in dbSNP:rs35462442)
- UniProt: Uncertain significance (in dbSNP:rs35462442)
- Most common in the 1KG:IBS population (allele frequency 0.017)
- 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)