F38L (p.Phe38Leu) variant of ABCG8 (Q9H221)
F38L (p.Phe38Leu) in ABCG8 (Q9H221) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
F38L (p.Phe38Leu) variant details
- p.Phe38Leu
- gnomAD 2-43844557-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.536
- REVEL 0.58
- MetaLR 0.48
- MetaSVM -0.32
- CADD 23.10
- PolyPhen-2 0.33
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available