R29G (p.Arg29Gly) variant of MSH6 (DNA mismatch repair protein Msh6)
R29G (p.Arg29Gly) 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 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
R29G (p.Arg29Gly) variant details
- p.Arg29Gly
- rs756589186
- ClinGen CA346734807
- ClinVar RCV000629908
- ClinVar RCV001181391
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.189
- REVEL 0.15
- MetaLR 0.26
- MetaSVM -0.89
- CADD 15.30
- PolyPhen-2 0.00
- SIFT 0.75
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.9e-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)
- Cited in: Lynch Syndrome. (PMID 20301390)