R506H (p.Arg506His) variant of HSD17B4 (Peroxisomal multifunctional enzyme type 2)
R506H (p.Arg506His) 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; Perrault syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
R506H (p.Arg506His) variant details
- p.Arg506His
- rs1554068136
- ClinGen CA360869059
- NCI-TCGA Cosmic COSV5633
- cosmic curated COSV56334
- Pathogenic/Likely pathogenic
- Bifunctional peroxisomal enzyme deficiency; Perrault syndrome; Perrault syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.852
- REVEL 0.91
- ESM-1b 1.00
- AlphaMissense 0.81
- MetaLR 0.81
- MetaSVM 0.89
- CADD 32.00
- ClinVar: Pathogenic/Likely pathogenic (Bifunctional peroxisomal enzyme deficiency; Perrault syndrome; P)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Ashkenazi Jewish population (allele frequency 0.0052)
- Structural context available
- Cited in: Perrault Syndrome Overview. (PMID 25254289)