E8E (p.Glu8Glu) variant of ABCG8 (Q9H221)
E8E (p.Glu8Glu) in ABCG8 (Q9H221) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
E8E (p.Glu8Glu) variant details
- p.Glu8Glu
- gnomAD 2-43832622-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0847
- CADD 0.80
- Population evidence available
- Structural context available
- Literature evidence available