L178F (p.Leu178Phe) variant of HSD17B4 (Peroxisomal multifunctional enzyme type 2)
L178F (p.Leu178Phe) 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 Perrault syndrome 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
L178F (p.Leu178Phe) variant details
- p.Leu178Phe
- rs1307944675
- ClinGen CA360866267
- cosmic curated COSV56333
- ClinVar RCV002250053
- Pathogenic
- Perrault syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.682
- REVEL 0.71
- ESM-1b 1.00
- AlphaMissense 0.43
- MetaLR 0.78
- MetaSVM 0.61
- CADD 23.50
- ClinVar: Pathogenic (Perrault syndrome 1)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the East Asian population (allele frequency 0.0015)
- Structural context available
- Cited in: Perrault Syndrome Overview. (PMID 25254289)