G14W (p.Gly14Trp) variant of ABCG8 (Q9H221)
G14W (p.Gly14Trp) in ABCG8 (Q9H221) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
G14W (p.Gly14Trp) variant details
- p.Gly14Trp
- gnomAD 2-43839093-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.331
- REVEL 0.29
- MetaLR 0.58
- MetaSVM -0.35
- CADD 16.90
- PolyPhen-2 0.62
- SIFT 0.10
- Population evidence available
- Structural context available
- Literature evidence available