A15S (p.Ala15Ser) variant of ABCG8 (Q9H221)
A15S (p.Ala15Ser) in ABCG8 (Q9H221) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
A15S (p.Ala15Ser) variant details
- p.Ala15Ser
- gnomAD 2-43832626-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.0765
- CADD 1.03
- SIFT 0.69
- Population evidence available
- Structural context available
- Literature evidence available