H406R (p.His406Arg) variant of HSD17B4 (Peroxisomal multifunctional enzyme type 2)
H406R (p.His406Arg) in HSD17B4 (Peroxisomal multifunctional enzyme type 2) is a missense change. Clinical records from ClinVar and UniProt describe it as likely pathogenic in the context of Bifunctional peroxisomal enzyme deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data and structural context.
H406R (p.His406Arg) variant details
- p.His406Arg
- ExAC rs745847164
- TOPMed rs745847164
- gnomAD rs745847164
- Likely pathogenic
- Bifunctional peroxisomal enzyme deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.855
- REVEL 0.96
- ESM-1b 1.00
- AlphaMissense 0.94
- MetaLR 0.89
- MetaSVM 1.04
- CADD 25.30
- ClinVar: Likely pathogenic (Bifunctional peroxisomal enzyme deficiency)
- UniProt: Likely pathogenic
- Most common in the 1KG:CDX population (allele frequency 0.017)
- Structural context available