A6E (p.Ala6Glu) variant of ABCG8 (Q9H221)
A6E (p.Ala6Glu) in ABCG8 (Q9H221) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
A6E (p.Ala6Glu) variant details
- p.Ala6Glu
- gnomAD 2-43839070-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.259
- REVEL 0.21
- MetaLR 0.29
- MetaSVM -0.70
- CADD 0.83
- PolyPhen-2 0.01
- SIFT 0.55
- Population evidence available
- Structural context available
- Literature evidence available