F45S (p.Phe45Ser) variant of HSD17B4 (Peroxisomal multifunctional enzyme type 2)
F45S (p.Phe45Ser) in HSD17B4 (Peroxisomal multifunctional enzyme type 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
F45S (p.Phe45Ser) variant details
- p.Phe45Ser
- rs1373435837
- gnomAD 5-119471638-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.16
- REVEL 0.13
- MetaLR 0.19
- MetaSVM -0.93
- CADD 8.72
- SIFT 0.65
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Literature evidence available