D5E (p.Asp5Glu) variant of SLC22A6 (Q4U2R8)
D5E (p.Asp5Glu) in SLC22A6 (Q4U2R8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
D5E (p.Asp5Glu) variant details
- p.Asp5Glu
- ExAC rs746807941
- gnomAD rs746807941
- Missense
- Variant Prioritization Score for Impact Estimate 0.27
- REVEL 0.05
- MetaLR 0.03
- MetaSVM -1.04
- CADD 18.70
- PolyPhen-2 0.25
- SIFT 0.79
- Population evidence available
- Structural context available