A17P (p.Ala17Pro) variant of HSD17B4 (Peroxisomal multifunctional enzyme type 2)
A17P (p.Ala17Pro) in HSD17B4 (Peroxisomal multifunctional enzyme type 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.94 / 1. The record also includes structural context.
A17P (p.Ala17Pro) variant details
- p.Ala17Pro
- ExAC rs750954413
- TOPMed rs750954413
- gnomAD rs750954413
- Missense
- Variant Prioritization Score for Impact Estimate 0.943
- REVEL 0.93
- ESM-1b 1.00
- AlphaMissense 0.98
- SIFT 0.24
- Structural context available