F45I (p.Phe45Ile) variant of HSD17B4 (Peroxisomal multifunctional enzyme type 2)
F45I (p.Phe45Ile) in HSD17B4 (Peroxisomal multifunctional enzyme type 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
F45I (p.Phe45Ile) variant details
- p.Phe45Ile
- gnomAD 5-119471691-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.302
- REVEL 0.17
- MetaLR 0.19
- MetaSVM -0.88
- CADD 9.99
- SIFT 0.09
- Population evidence available
- Structural context available
- Literature evidence available