R9R (p.Arg9Arg) variant of ABCG8 (Q9H221)
R9R (p.Arg9Arg) in ABCG8 (Q9H221) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
R9R (p.Arg9Arg) variant details
- p.Arg9Arg
- gnomAD 2-43839080-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.11
- CADD 4.13
- Population evidence available
- Structural context available
- Literature evidence available