L11F (p.Leu11Phe) variant of ABCG8 (Q9H221)
L11F (p.Leu11Phe) in ABCG8 (Q9H221) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
L11F (p.Leu11Phe) variant details
- p.Leu11Phe
- rs1668019200
- gnomAD 2-43832596-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.161
- CADD 9.20
- SIFT 0.15
- Population evidence available
- Structural context available
- Literature evidence available