E34Q (p.Glu34Gln) variant of SLC47A1 (Q96FL8)
E34Q (p.Glu34Gln) in SLC47A1 (Q96FL8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
E34Q (p.Glu34Gln) variant details
- p.Glu34Gln
- gnomAD 17-19534039-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.456
- REVEL 0.25
- CADD 26.60
- PolyPhen-2 0.93
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available