F45C (p.Phe45Cys) variant of HSD17B4 (Peroxisomal multifunctional enzyme type 2)
F45C (p.Phe45Cys) in HSD17B4 (Peroxisomal multifunctional enzyme type 2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
F45C (p.Phe45Cys) variant details
- p.Phe45Cys
- gnomAD 5-119471690-CTT-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.369
- CADD 19.70
- Population evidence available
- Structural context available
- Literature evidence available