L11Q (p.Leu11Gln) variant of ABCG8 (Q9H221)
L11Q (p.Leu11Gln) in ABCG8 (Q9H221) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
L11Q (p.Leu11Gln) variant details
- p.Leu11Gln
- gnomAD 2-43839084-C-CAG
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.392
- CADD 19.40
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Literature evidence available