R134H (p.Arg134His) variant of SLC22A6 (Q4U2R8)
R134H (p.Arg134His) in SLC22A6 (Q4U2R8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
R134H (p.Arg134His) variant details
- p.Arg134His
- cosmic curated COSV64561
- 1000Genomes rs534797513
- ExAC rs534797513
- TOPMed rs534797513
- Missense
- Variant Prioritization Score for Impact Estimate 0.402
- REVEL 0.28
- MetaLR 0.30
- MetaSVM -0.36
- CADD 27.00
- PolyPhen-2 0.95
- SIFT 0.01
- Population evidence available
- Structural context available