R50P (p.Arg50Pro) variant of SLC22A6 (Q4U2R8)
R50P (p.Arg50Pro) in SLC22A6 (Q4U2R8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
R50P (p.Arg50Pro) variant details
- p.Arg50Pro
- 1000Genomes rs11568626
- ESP rs11568626
- ExAC rs11568626
- TOPMed rs11568626
- Missense
- Variant Prioritization Score for Impact Estimate 0.316
- REVEL 0.21
- MetaLR 0.23
- MetaSVM -0.59
- CADD 20.30
- PolyPhen-2 0.05
- SIFT 0.01
- Population evidence available
- Structural context available