A15D (p.Ala15Asp) variant of ABCG8 (Q9H221)
A15D (p.Ala15Asp) 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.
A15D (p.Ala15Asp) variant details
- p.Ala15Asp
- gnomAD 2-43839097-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.302
- REVEL 0.23
- MetaLR 0.45
- MetaSVM -0.52
- CADD 15.50
- PolyPhen-2 0.03
- SIFT 0.06
- Population evidence available
- Structural context available
- Literature evidence available