E33D (p.Glu33Asp) variant of SLC47A1 (Q96FL8)
E33D (p.Glu33Asp) in SLC47A1 (Q96FL8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
E33D (p.Glu33Asp) variant details
- p.Glu33Asp
- gnomAD 17-19534038-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.216
- REVEL 0.01
- CADD 12.80
- PolyPhen-2 0.02
- SIFT 0.36
- Population evidence available
- Structural context available
- Literature evidence available