A2V (p.Ala2Val) variant of ABCG8 (Q9H221)
A2V (p.Ala2Val) in ABCG8 (Q9H221) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
A2V (p.Ala2Val) variant details
- p.Ala2Val
- gnomAD 2-43839058-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.465
- REVEL 0.47
- MetaLR 0.49
- MetaSVM -0.26
- CADD 19.40
- PolyPhen-2 0.14
- SIFT 0.10
- Population evidence available
- Structural context available
- Literature evidence available