W273C (p.Trp273Cys) variant of HSD17B4 (Peroxisomal multifunctional enzyme type 2)
W273C (p.Trp273Cys) 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 Bifunctional peroxisomal enzyme deficiency; Perrault syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
W273C (p.Trp273Cys) variant details
- p.Trp273Cys
- rs368744809
- ClinGen CA052835
- ClinVar RCV002518408
- ClinVar RCV003463693
- Pathogenic/Likely pathogenic
- Bifunctional peroxisomal enzyme deficiency; Perrault syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.897
- REVEL 0.90
- ESM-1b 1.00
- AlphaMissense 0.94
- MetaLR 0.91
- MetaSVM 1.06
- CADD 33.00
- ClinVar: Pathogenic/Likely pathogenic (Bifunctional peroxisomal enzyme deficiency; Perrault syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Finnish in Finland (FIN) population (allele frequency 5.6e-05)
- Structural context available
- Cited in: Perrault Syndrome Overview. (PMID 25254289)