E34K (p.Glu34Lys) variant of SLC47A1 (Q96FL8)
E34K (p.Glu34Lys) in SLC47A1 (Q96FL8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
E34K (p.Glu34Lys) variant details
- p.Glu34Lys
- gnomAD 17-19534039-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.502
- REVEL 0.32
- CADD 29.20
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available