R134C (p.Arg134Cys) variant of SLC22A6 (Q4U2R8)
R134C (p.Arg134Cys) in SLC22A6 (Q4U2R8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
R134C (p.Arg134Cys) variant details
- p.Arg134Cys
- ExAC rs752478205
- Missense
- Variant Prioritization Score for Impact Estimate 0.506
- REVEL 0.34
- MetaLR 0.33
- MetaSVM -0.39
- CADD 32.00
- PolyPhen-2 0.97
- SIFT 0.13
- Population evidence available
- Structural context available