E2G (p.Glu2Gly) variant of SLC47A1 (Q96FL8)
E2G (p.Glu2Gly) in SLC47A1 (Q96FL8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
E2G (p.Glu2Gly) variant details
- p.Glu2Gly
- gnomAD 17-19533944-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.254
- REVEL 0.15
- CADD 22.20
- PolyPhen-2 0.00
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available