A17T (p.Ala17Thr) variant of HSD17B4 (Peroxisomal multifunctional enzyme type 2)
A17T (p.Ala17Thr) in HSD17B4 (Peroxisomal multifunctional enzyme type 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data and structural context.
A17T (p.Ala17Thr) variant details
- p.Ala17Thr
- ExAC rs750954413
- TOPMed rs750954413
- gnomAD rs750954413
- Missense
- Variant Prioritization Score for Impact Estimate 0.849
- REVEL 0.91
- ESM-1b 1.00
- AlphaMissense 0.88
- CADD 18.10
- PolyPhen-2 1.00
- SIFT 0.02
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available