L11I (p.Leu11Ile) variant of ABCG8 (Q9H221)
L11I (p.Leu11Ile) in ABCG8 (Q9H221) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
L11I (p.Leu11Ile) variant details
- p.Leu11Ile
- gnomAD 2-43832632-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.604
- CADD 0.33
- SIFT 0.42
- Population evidence available
- Structural context available
- Literature evidence available