N98D (p.Asn98Asp) variant of HSD17B4 (Peroxisomal multifunctional enzyme type 2)
N98D (p.Asn98Asp) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data and structural context.
N98D (p.Asn98Asp) variant details
- p.Asn98Asp
- Ensembl rs1561442127
- Likely pathogenic
- Perrault syndrome; Bifunctional peroxisomal enzyme deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.821
- REVEL 0.88
- ESM-1b 1.00
- AlphaMissense 0.93
- MetaLR 0.86
- MetaSVM 0.94
- CADD 26.90
- ClinVar: Likely pathogenic (Perrault syndrome; Bifunctional peroxisomal enzyme deficiency)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the 1KG:ACB population (allele frequency 0.0054)
- Structural context available