E7E (p.Glu7Glu) variant of ABCG8 (Q9H221)
E7E (p.Glu7Glu) in ABCG8 (Q9H221) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
E7E (p.Glu7Glu) variant details
- p.Glu7Glu
- rs771255227
- gnomAD 2-43839074-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0903
- CADD 1.37
- Most common in the South Asian population (allele frequency 1.3e-05)
- Structural context available
- Literature evidence available