H406Y (p.His406Tyr) variant of HSD17B4 (Peroxisomal multifunctional enzyme type 2)
H406Y (p.His406Tyr) 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; Bifunctional peroxisomal enzyme deficiency; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
H406Y (p.His406Tyr) variant details
- p.His406Tyr
- rs371585154
- ClinGen CA3382136
- ClinVar RCV002251632
- ClinVar RCV005225576
- Likely pathogenic
- Perrault syndrome; Bifunctional peroxisomal enzyme deficiency; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.894
- REVEL 0.91
- ESM-1b 1.00
- AlphaMissense 0.89
- MetaLR 0.90
- MetaSVM 1.06
- CADD 29.80
- ClinVar: Likely pathogenic (Perrault syndrome; Bifunctional peroxisomal enzyme deficiency; n)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Latino/Admixed American population (allele frequency 0.00011)
- Structural context available
- Cited in: Perrault Syndrome Overview. (PMID 25254289)