A15A (p.Ala15Ala) variant of ABCG8 (Q9H221)
A15A (p.Ala15Ala) in ABCG8 (Q9H221) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
A15A (p.Ala15Ala) variant details
- p.Ala15Ala
- gnomAD 2-43832619-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.131
- CADD 7.09
- Population evidence available
- Structural context available
- Literature evidence available