E34G (p.Glu34Gly) variant of SLC47A1 (Q96FL8)
E34G (p.Glu34Gly) in SLC47A1 (Q96FL8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
E34G (p.Glu34Gly) variant details
- p.Glu34Gly
- gnomAD 17-19534040-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.496
- REVEL 0.38
- CADD 32.00
- PolyPhen-2 0.98
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available