F45Y (p.Phe45Tyr) variant of HSD17B4 (Peroxisomal multifunctional enzyme type 2)
F45Y (p.Phe45Tyr) in HSD17B4 (Peroxisomal multifunctional enzyme type 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes structural context.
F45Y (p.Phe45Tyr) variant details
- p.Phe45Tyr
- cosmic curated COSV56335
- Missense
- Variant Prioritization Score for Impact Estimate 0.235
- REVEL 0.17
- ESM-1b 0.00
- AlphaMissense 0.11
- MetaLR 0.39
- MetaSVM -0.66
- SIFT 1.00
- Structural context available