R9G (p.Arg9Gly) variant of ABCG8 (Q9H221)
R9G (p.Arg9Gly) in ABCG8 (Q9H221) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.05 / 1. The record also includes population frequency data, published literature, and structural context.
R9G (p.Arg9Gly) variant details
- p.Arg9Gly
- gnomAD 2-43832611-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.0541
- CADD 1.50
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available