E2K (p.Glu2Lys) variant of SLC47A1 (Q96FL8)
E2K (p.Glu2Lys) in SLC47A1 (Q96FL8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
E2K (p.Glu2Lys) variant details
- p.Glu2Lys
- gnomAD 17-19533943-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.312
- REVEL 0.15
- CADD 18.40
- PolyPhen-2 0.01
- SIFT 0.05
- Population evidence available
- Structural context available
- Literature evidence available