Q18R (p.Gln18Arg) variant of ABCG8 (Q9H221)
Q18R (p.Gln18Arg) in ABCG8 (Q9H221) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
Q18R (p.Gln18Arg) variant details
- p.Gln18Arg
- gnomAD 2-43832591-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.215
- CADD 8.84
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available