E7V (p.Glu7Val) variant of ABCG8 (Q9H221)
E7V (p.Glu7Val) in ABCG8 (Q9H221) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
E7V (p.Glu7Val) variant details
- p.Glu7Val
- gnomAD 2-43839073-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.302
- REVEL 0.21
- MetaLR 0.47
- MetaSVM -0.55
- CADD 11.10
- PolyPhen-2 0.08
- SIFT 0.12
- Population evidence available
- Structural context available
- Literature evidence available