R248L (p.Arg248Leu) variant of HSD17B4 (Peroxisomal multifunctional enzyme type 2)
R248L (p.Arg248Leu) 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 0.88 / 1. The record also includes published literature and structural context.
R248L (p.Arg248Leu) variant details
- p.Arg248Leu
- rs748057401
- ClinGen CA360867151
- ClinVar RCV002580362
- ClinVar RCV005616413
- Likely pathogenic
- Bifunctional peroxisomal enzyme deficiency; Perrault syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.884
- ESM-1b 1.00
- AlphaMissense 0.75
- MetaLR 0.85
- MetaSVM 0.95
- PolyPhen-2 0.94
- SIFT 0.01
- ClinVar: Likely pathogenic (Bifunctional peroxisomal enzyme deficiency; Perrault syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Perrault Syndrome Overview. (PMID 25254289)