E5V (p.Glu5Val) variant of SLC47A1 (Q96FL8)
E5V (p.Glu5Val) in SLC47A1 (Q96FL8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
E5V (p.Glu5Val) variant details
- p.Glu5Val
- gnomAD 17-19533953-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.0871
- REVEL 0.05
- CADD 11.10
- PolyPhen-2 0.00
- SIFT 0.07
- Population evidence available
- Structural context available
- Literature evidence available