A2D (p.Ala2Asp) variant of SLC22A6 (Q4U2R8)
A2D (p.Ala2Asp) in SLC22A6 (Q4U2R8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
A2D (p.Ala2Asp) variant details
- p.Ala2Asp
- ESP rs369844426
- ExAC rs369844426
- TOPMed rs369844426
- gnomAD rs369844426
- Missense
- Variant Prioritization Score for Impact Estimate 0.424
- REVEL 0.21
- MetaLR 0.34
- MetaSVM -0.43
- CADD 24.90
- PolyPhen-2 0.94
- SIFT 0.00
- Population evidence available
- Structural context available