G12A (p.Gly12Ala) variant of SLC22A6 (Q4U2R8)
G12A (p.Gly12Ala) in SLC22A6 (Q4U2R8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
G12A (p.Gly12Ala) variant details
- p.Gly12Ala
- ExAC rs754495560
- TOPMed rs754495560
- gnomAD rs754495560
- Missense
- Variant Prioritization Score for Impact Estimate 0.35
- REVEL 0.21
- MetaLR 0.19
- MetaSVM -0.80
- CADD 22.80
- PolyPhen-2 0.42
- SIFT 0.03
- Population evidence available
- Structural context available