A16V (p.Ala16Val) variant of MSH6 (DNA mismatch repair protein Msh6)
A16V (p.Ala16Val) in MSH6 (DNA mismatch repair protein Msh6) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. 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.
A16V (p.Ala16Val) variant details
- p.Ala16Val
- rs759501511
- ClinGen CA073037
- ClinVar RCV000563575
- ClinVar RCV001218497
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.22
- REVEL 0.09
- MetaLR 0.41
- MetaSVM -0.72
- CADD 16.30
- PolyPhen-2 0.01
- SIFT 0.32
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.5e-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)