Q18H (p.Gln18His) variant of ABCG8 (Q9H221)
Q18H (p.Gln18His) in ABCG8 (Q9H221) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
Q18H (p.Gln18His) variant details
- p.Gln18His
- gnomAD 2-43832592-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.436
- CADD 12.90
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available