G14R (p.Gly14Arg) variant of ABCG8 (Q9H221)
G14R (p.Gly14Arg) in ABCG8 (Q9H221) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
G14R (p.Gly14Arg) variant details
- p.Gly14Arg
- gnomAD 2-43839093-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.189
- REVEL 0.12
- MetaLR 0.38
- MetaSVM -0.73
- CADD 1.68
- PolyPhen-2 0.00
- SIFT 0.73
- Population evidence available
- Structural context available
- Literature evidence available