F45L (p.Phe45Leu) variant of HSD17B4 (Peroxisomal multifunctional enzyme type 2)
F45L (p.Phe45Leu) in HSD17B4 (Peroxisomal multifunctional enzyme type 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
F45L (p.Phe45Leu) variant details
- p.Phe45Leu
- gnomAD 5-119471637-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.191
- REVEL 0.21
- MetaLR 0.20
- MetaSVM -0.92
- CADD 4.95
- SIFT 0.71
- Population evidence available
- Structural context available
- Literature evidence available