Q24L (p.Gln24Leu) variant of ABCG8 (Q9H221)
Q24L (p.Gln24Leu) in ABCG8 (Q9H221) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
Q24L (p.Gln24Leu) variant details
- p.Gln24Leu
- rs1558796289
- gnomAD 2-43844509-CCTCCA
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.411
- CADD 29.70
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Literature evidence available