G10W (p.Gly10Trp) variant of ABCG8 (Q9H221)
G10W (p.Gly10Trp) 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.
G10W (p.Gly10Trp) variant details
- p.Gly10Trp
- gnomAD 2-43839081-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.455
- REVEL 0.25
- MetaLR 0.45
- MetaSVM -0.52
- CADD 20.20
- PolyPhen-2 0.53
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available