E34D (p.Glu34Asp) variant of SLC47A1 (Q96FL8)
E34D (p.Glu34Asp) in SLC47A1 (Q96FL8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
E34D (p.Glu34Asp) variant details
- p.Glu34Asp
- gnomAD 17-19534041-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.302
- REVEL 0.26
- CADD 24.30
- PolyPhen-2 0.80
- SIFT 0.05
- Population evidence available
- Structural context available
- Literature evidence available