R251L (p.Arg251Leu) variant of HSD17B4 (Peroxisomal multifunctional enzyme type 2)
R251L (p.Arg251Leu) 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 0.75 / 1. The record also includes published literature and structural context.
R251L (p.Arg251Leu) variant details
- p.Arg251Leu
- rs773024366
- ClinGen CA360867171
- ClinVar RCV002819051
- Likely pathogenic
- Bifunctional peroxisomal enzyme deficiency; Perrault syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.746
- ESM-1b 1.00
- AlphaMissense 0.26
- MetaLR 0.84
- MetaSVM 0.92
- PolyPhen-2 1.00
- SIFT 0.00
- 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)