A196E (p.Ala196Glu) variant of HSD17B4 (Peroxisomal multifunctional enzyme type 2)
A196E (p.Ala196Glu) in HSD17B4 (Peroxisomal multifunctional enzyme type 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Bifunctional peroxisomal enzyme deficiency; Perrault syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
A196E (p.Ala196Glu) variant details
- p.Ala196Glu
- rs550705310
- ClinGen CA360866385
- ClinVar RCV003794397
- 1000Genomes rs550705310
- Likely pathogenic
- Bifunctional peroxisomal enzyme deficiency; Perrault syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.889
- REVEL 0.93
- ESM-1b 1.00
- AlphaMissense 0.98
- MetaLR 0.89
- MetaSVM 1.00
- CADD 25.90
- ClinVar: Likely pathogenic (Bifunctional peroxisomal enzyme deficiency; Perrault syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the 1KG:CDX population (allele frequency 0.017)
- Structural context available
- Cited in: Perrault Syndrome Overview. (PMID 25254289)