A19E (p.Ala19Glu) variant of HSD17B4 (Peroxisomal multifunctional enzyme type 2)
A19E (p.Ala19Glu) in HSD17B4 (Peroxisomal multifunctional enzyme type 2) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
A19E (p.Ala19Glu) variant details
- p.Ala19Glu
- ESP rs148363262
- ExAC rs148363262
- TOPMed rs148363262
- gnomAD rs148363262
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.418
- REVEL 0.36
- ESM-1b 0.47
- AlphaMissense 0.29
- CADD 16.50
- PolyPhen-2 0.09
- SIFT 0.16
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:ACB population (allele frequency 0.0054)
- Structural context available