E8D (p.Glu8Asp) variant of ABCG8 (Q9H221)
E8D (p.Glu8Asp) in ABCG8 (Q9H221) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
E8D (p.Glu8Asp) variant details
- p.Glu8Asp
- gnomAD 2-43839077-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.277
- REVEL 0.10
- MetaLR 0.46
- MetaSVM -0.64
- CADD 2.98
- PolyPhen-2 0.00
- SIFT 0.43
- Population evidence available
- Structural context available
- Literature evidence available