F45D (p.Phe45Asp) variant of HSD17B4 (Peroxisomal multifunctional enzyme type 2)
F45D (p.Phe45Asp) in HSD17B4 (Peroxisomal multifunctional enzyme type 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
F45D (p.Phe45Asp) variant details
- p.Phe45Asp
- rs1756386792
- gnomAD 5-119471690-CTTT-
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.268
- CADD 6.06
- Population evidence available
- Structural context available
- Literature evidence available