L405P (p.Leu405Pro) variant of HSD17B4 (Peroxisomal multifunctional enzyme type 2)
L405P (p.Leu405Pro) 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 1. 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.
L405P (p.Leu405Pro) variant details
- p.Leu405Pro
- rs2531759797
- ClinGen CA360868379
- ClinVar RCV003469849
- ClinVar RCV005036810
- Likely pathogenic
- Bifunctional peroxisomal enzyme deficiency; Perrault syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.853
- REVEL 0.95
- ESM-1b 1.00
- AlphaMissense 0.98
- MetaLR 0.86
- MetaSVM 1.00
- CADD 27.90
- ClinVar: Likely pathogenic (Bifunctional peroxisomal enzyme deficiency; Perrault syndrome 1)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the HGDP:SAN population (allele frequency 1)
- Structural context available
- Cited in: Perrault Syndrome Overview. (PMID 25254289)