Q43H (p.Gln43His) variant of ABCG8 (Q9H221)
Q43H (p.Gln43His) in ABCG8 (Q9H221) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
Q43H (p.Gln43His) variant details
- p.Gln43His
- ESP rs367887512
- ExAC rs367887512
- TOPMed rs367887512
- gnomAD rs367887512
- Missense
- Variant Prioritization Score for Impact Estimate 0.263
- REVEL 0.18
- CADD 8.77
- PolyPhen-2 0.01
- SIFT 0.08
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available