R50L (p.Arg50Leu) variant of SLC22A6 (Q4U2R8)
R50L (p.Arg50Leu) in SLC22A6 (Q4U2R8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
R50L (p.Arg50Leu) variant details
- p.Arg50Leu
- 1000Genomes rs11568626
- ESP rs11568626
- ExAC rs11568626
- TOPMed rs11568626
- Missense
- Variant Prioritization Score for Impact Estimate 0.246
- REVEL 0.09
- MetaLR 0.16
- MetaSVM -0.85
- CADD 19.10
- PolyPhen-2 0.02
- SIFT 0.06
- Population evidence available
- Structural context available