L11A (p.Leu11Ala) variant of ABCG8 (Q9H221)
L11A (p.Leu11Ala) in ABCG8 (Q9H221) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
L11A (p.Leu11Ala) variant details
- p.Leu11Ala
- gnomAD 2-43839080-A-AG
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.216
- CADD 19.10
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Literature evidence available