E5G (p.Glu5Gly) variant of SLC47A1 (Q96FL8)
E5G (p.Glu5Gly) in SLC47A1 (Q96FL8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
E5G (p.Glu5Gly) variant details
- p.Glu5Gly
- gnomAD 17-19533953-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.107
- REVEL 0.08
- CADD 12.60
- PolyPhen-2 0.00
- SIFT 0.11
- Population evidence available
- Structural context available
- Literature evidence available