R9I (p.Arg9Ile) variant of ABCG8 (Q9H221)
R9I (p.Arg9Ile) in ABCG8 (Q9H221) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
R9I (p.Arg9Ile) variant details
- p.Arg9Ile
- gnomAD 2-43832612-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.101
- CADD 7.33
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available