L36L (p.Leu36Leu) variant of ABCG8 (Q9H221)
L36L (p.Leu36Leu) in ABCG8 (Q9H221) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
L36L (p.Leu36Leu) variant details
- p.Leu36Leu
- rs780526039
- gnomAD 2-43844549-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.309
- CADD 9.06
- Most common in the South Asian population (allele frequency 0.00012)
- Structural context available
- Literature evidence available