Q4R (p.Gln4Arg) variant of MSH6 (DNA mismatch repair protein Msh6)
Q4R (p.Gln4Arg) 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 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
Q4R (p.Gln4Arg) variant details
- p.Gln4Arg
- rs1572697725
- ClinGen CA346734477
- ClinVar RCV000822335
- ClinVar RCV005367593
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.456
- REVEL 0.38
- MetaLR 0.54
- MetaSVM -0.01
- CADD 22.80
- PolyPhen-2 0.01
- SIFT 0.11
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.8e-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)
- Cited in: Lynch Syndrome. (PMID 20301390)