R26T (p.Arg26Thr) variant of MSH6 (DNA mismatch repair protein Msh6)
R26T (p.Arg26Thr) 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 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
R26T (p.Arg26Thr) variant details
- p.Arg26Thr
- rs1472227590
- ClinGen CA346734792
- ClinVar RCV001052925
- ClinVar RCV004000056
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.362
- REVEL 0.18
- MetaLR 0.27
- MetaSVM -0.88
- CADD 11.80
- PolyPhen-2 0.00
- SIFT 0.80
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 3.4e-06)
- 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: Practice parameters for the identification and testing of patients at risk for dominantly inherited colorectal… (PMID 11598466)