L23F (p.Leu23Phe) variant of ABCG8 (Q9H221)
L23F (p.Leu23Phe) in ABCG8 (Q9H221) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
L23F (p.Leu23Phe) variant details
- p.Leu23Phe
- gnomAD 2-43832646-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.281
- CADD 4.14
- SIFT 0.57
- Population evidence available
- Structural context available
- Literature evidence available