L11L (p.Leu11Leu) variant of ABCG8 (Q9H221)
L11L (p.Leu11Leu) in ABCG8 (Q9H221) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
L11L (p.Leu11Leu) variant details
- p.Leu11Leu
- rs1038359139
- gnomAD 2-43832598-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.178
- CADD 0.76
- Population evidence available
- Structural context available
- Literature evidence available