E8Q (p.Glu8Gln) variant of ABCG8 (Q9H221)
E8Q (p.Glu8Gln) in ABCG8 (Q9H221) is a missense 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.
E8Q (p.Glu8Gln) variant details
- p.Glu8Gln
- rs555401147
- gnomAD 2-43832620-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.252
- CADD 4.37
- SIFT 0.11
- Most common in the 1KG:BEB population (allele frequency 0.0051)
- Structural context available
- Literature evidence available