R26W (p.Arg26Trp) variant of MSH6 (DNA mismatch repair protein Msh6)
R26W (p.Arg26Trp) 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 0.38 / 1. The record also includes population frequency data and structural context.
R26W (p.Arg26Trp) variant details
- p.Arg26Trp
- ExAC rs757622849
- gnomAD rs757622849
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.378
- REVEL 0.34
- MetaLR 0.48
- MetaSVM -0.49
- CADD 17.70
- PolyPhen-2 0.31
- SIFT 0.02
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Ashkenazi Jewish population (allele frequency 7.7e-05)
- Structural context available