L736H (p.Leu736His) variant of HSD17B4 (Peroxisomal multifunctional enzyme type 2)
L736H (p.Leu736His) 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 Perrault syndrome 1; Bifunctional peroxisomal enzyme deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes published literature and structural context.
L736H (p.Leu736His) variant details
- p.Leu736His
- rs1755036404
- ClinGen CA360872780
- ClinVar RCV001332424
- ClinVar RCV004035740
- Likely pathogenic
- Perrault syndrome 1; Bifunctional peroxisomal enzyme deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.822
- ESM-1b 1.00
- AlphaMissense 0.56
- MetaLR 0.82
- MetaSVM 0.89
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Perrault syndrome 1; Bifunctional peroxisomal enzyme deficiency)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Perrault Syndrome Overview. (PMID 25254289)