R248C (p.Arg248Cys) variant of HSD17B4 (Peroxisomal multifunctional enzyme type 2)
R248C (p.Arg248Cys) in HSD17B4 (Peroxisomal multifunctional enzyme type 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as 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 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
R248C (p.Arg248Cys) variant details
- p.Arg248Cys
- rs969485098
- ClinGen CA16040964
- NCI-TCGA Cosmic COSV5633
- cosmic curated COSV56333
- Pathogenic
- Bifunctional peroxisomal enzyme deficiency; Perrault syndrome; Perrault syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.875
- REVEL 0.91
- ESM-1b 1.00
- AlphaMissense 0.80
- MetaLR 0.82
- MetaSVM 0.88
- CADD 31.00
- ClinVar: Pathogenic (Bifunctional peroxisomal enzyme deficiency; Perrault syndrome; P)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the HGDP:PATHAN population (allele frequency 0.14)
- Structural context available
- Cited in: Perrault Syndrome Overview. (PMID 25254289)