E123Q (p.Glu123Gln) variant of SLC22A6 (Q4U2R8)
E123Q (p.Glu123Gln) in SLC22A6 (Q4U2R8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
E123Q (p.Glu123Gln) variant details
- p.Glu123Gln
- TOPMed rs2086291666
- gnomAD rs2086291666
- Missense
- Variant Prioritization Score for Impact Estimate 0.448
- REVEL 0.26
- MetaLR 0.30
- MetaSVM -0.48
- CADD 28.00
- PolyPhen-2 0.94
- SIFT 0.02
- Population evidence available
- Structural context available