A5E (p.Ala5Glu) variant of ABCG8 (Q9H221)
A5E (p.Ala5Glu) in ABCG8 (Q9H221) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
A5E (p.Ala5Glu) variant details
- p.Ala5Glu
- gnomAD 2-43839067-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.338
- REVEL 0.35
- MetaLR 0.36
- MetaSVM -0.61
- CADD 5.58
- PolyPhen-2 0.14
- SIFT 0.15
- Population evidence available
- Structural context available
- Literature evidence available