G14V (p.Gly14Val) variant of ABCG8 (Q9H221)
G14V (p.Gly14Val) in ABCG8 (Q9H221) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
G14V (p.Gly14Val) variant details
- p.Gly14Val
- gnomAD 2-43839094-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.147
- REVEL 0.13
- MetaLR 0.37
- MetaSVM -0.67
- CADD 1.43
- PolyPhen-2 0.04
- SIFT 0.35
- Population evidence available
- Structural context available
- Literature evidence available