E15D (p.Glu15Asp) variant of SLC47A1 (Q96FL8)
E15D (p.Glu15Asp) in SLC47A1 (Q96FL8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
E15D (p.Glu15Asp) variant details
- p.Glu15Asp
- gnomAD 17-19533984-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.135
- REVEL 0.02
- CADD 7.21
- PolyPhen-2 0.00
- SIFT 0.52
- Population evidence available
- Structural context available
- Literature evidence available