L27L (p.Leu27Leu) variant of ABCG8 (Q9H221)
L27L (p.Leu27Leu) in ABCG8 (Q9H221) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
L27L (p.Leu27Leu) variant details
- p.Leu27Leu
- rs879383949
- gnomAD 2-43844522-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.248
- CADD 7.73
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Literature evidence available