Y156H (p.Tyr156His) variant of HSD17B4 (Peroxisomal multifunctional enzyme type 2)
Y156H (p.Tyr156His) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
Y156H (p.Tyr156His) variant details
- p.Tyr156His
- rs2126702600
- ClinGen CA360866121
- ClinVar RCV001806366
- Ensembl rs2126702600
- Likely pathogenic
- Perrault syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.713
- REVEL 0.80
- ESM-1b 1.00
- AlphaMissense 0.71
- MetaLR 0.60
- MetaSVM 0.36
- CADD 27.30
- ClinVar: Likely pathogenic (Perrault syndrome 1)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the HGDP:BEDOUIN population (allele frequency 0.012)
- Structural context available
- Cited in: Perrault Syndrome Overview. (PMID 25254289)