E19D (p.Glu19Asp) variant of SLC47A1 (Q96FL8)
E19D (p.Glu19Asp) in SLC47A1 (Q96FL8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
E19D (p.Glu19Asp) variant details
- p.Glu19Asp
- gnomAD 17-19533996-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.171
- REVEL 0.08
- CADD 11.10
- PolyPhen-2 0.04
- SIFT 0.50
- Population evidence available
- Structural context available
- Literature evidence available