A26P (p.Ala26Pro) variant of HSD17B4 (Peroxisomal multifunctional enzyme type 2)
A26P (p.Ala26Pro) in HSD17B4 (Peroxisomal multifunctional enzyme type 2) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and structural context.
A26P (p.Ala26Pro) variant details
- p.Ala26Pro
- ExAC rs751186437
- TOPMed rs751186437
- gnomAD rs751186437
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.742
- REVEL 0.88
- ESM-1b 1.00
- AlphaMissense 0.98
- MetaLR 0.54
- MetaSVM -0.04
- CADD 23.60
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 0.0052)
- Structural context available