Q18K (p.Gln18Lys) variant of ABCG8 (Q9H221)
Q18K (p.Gln18Lys) in ABCG8 (Q9H221) is a missense 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.
Q18K (p.Gln18Lys) variant details
- p.Gln18Lys
- gnomAD 2-43832635-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.0799
- CADD 0.32
- SIFT 0.92
- Population evidence available
- Structural context available
- Literature evidence available