A15P (p.Ala15Pro) variant of ABCG8 (Q9H221)
A15P (p.Ala15Pro) in ABCG8 (Q9H221) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
A15P (p.Ala15Pro) variant details
- p.Ala15Pro
- gnomAD 2-43839089-GA-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.294
- CADD 10.80
- Population evidence available
- Structural context available
- Literature evidence available