H47L (p.His47Leu) variant of SLC22A6 (Q4U2R8)
H47L (p.His47Leu) in SLC22A6 (Q4U2R8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
H47L (p.His47Leu) variant details
- p.His47Leu
- ExAC rs771007235
- TOPMed rs771007235
- gnomAD rs771007235
- Missense
- Variant Prioritization Score for Impact Estimate 0.624
- REVEL 0.67
- MetaLR 0.48
- MetaSVM 0.15
- CADD 26.70
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available
- Structural context available