G12E (p.Gly12Glu) variant of SLC47A1 (Q96FL8)
G12E (p.Gly12Glu) in SLC47A1 (Q96FL8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.04 / 1. The record also includes population frequency data, published literature, and structural context.
G12E (p.Gly12Glu) variant details
- p.Gly12Glu
- gnomAD 17-19533974-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.0426
- REVEL 0.01
- CADD 1.39
- PolyPhen-2 0.00
- SIFT 0.79
- Population evidence available
- Structural context available
- Literature evidence available