Q135L (p.Gln135Leu) variant of SLC22A6 (Q4U2R8)
Q135L (p.Gln135Leu) 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.
Q135L (p.Gln135Leu) variant details
- p.Gln135Leu
- ExAC rs759080975
- TOPMed rs759080975
- gnomAD rs759080975
- Missense
- Variant Prioritization Score for Impact Estimate 0.393
- REVEL 0.36
- MetaLR 0.28
- MetaSVM -0.54
- CADD 25.40
- PolyPhen-2 0.67
- SIFT 0.00
- Population evidence available
- Structural context available