I516T (p.Ile516Thr) variant of HSD17B4 (Peroxisomal multifunctional enzyme type 2)
I516T (p.Ile516Thr) in HSD17B4 (Peroxisomal multifunctional enzyme type 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Perrault syndrome; Bifunctional peroxisomal enzyme deficiency; Perrault syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
I516T (p.Ile516Thr) variant details
- p.Ile516Thr
- rs587777443
- ClinGen CA163183
- ClinVar RCV000125466
- ClinVar RCV000672665
- Pathogenic/Likely pathogenic
- Perrault syndrome; Bifunctional peroxisomal enzyme deficiency; Perrault syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.769
- REVEL 0.87
- ESM-1b 1.00
- AlphaMissense 0.34
- MetaLR 0.66
- MetaSVM 0.42
- CADD 27.20
- ClinVar: Pathogenic/Likely pathogenic (Perrault syndrome; Bifunctional peroxisomal enzyme deficiency; P)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Cited in: Specific combination of compound heterozygous mutations in 17β-hydroxysteroid dehydrogenase type 4 (HSD17B4) defines a… (PMID 23181892)
- Cited in: Perrault Syndrome Overview. (PMID 25254289)