E19G (p.Glu19Gly) variant of SLC47A1 (Q96FL8)
E19G (p.Glu19Gly) in SLC47A1 (Q96FL8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data, published literature, and structural context.
E19G (p.Glu19Gly) variant details
- p.Glu19Gly
- gnomAD 17-19533995-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.0722
- REVEL 0.01
- CADD 12.60
- PolyPhen-2 0.00
- SIFT 0.35
- Population evidence available
- Structural context available
- Literature evidence available