L7V (p.Leu7Val) variant of SLC22A6 (Q4U2R8)
L7V (p.Leu7Val) in SLC22A6 (Q4U2R8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
L7V (p.Leu7Val) variant details
- p.Leu7Val
- TOPMed rs2086300236
- gnomAD rs2086300236
- Missense
- Variant Prioritization Score for Impact Estimate 0.392
- REVEL 0.37
- MetaLR 0.45
- MetaSVM -0.01
- CADD 23.10
- PolyPhen-2 0.92
- SIFT 0.00
- Population evidence available
- Structural context available