N457D (p.Asn457Asp) variant of HSD17B4 (Peroxisomal multifunctional enzyme type 2)
N457D (p.Asn457Asp) 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 Bifunctional peroxisomal enzyme deficiency; Perrault syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
N457D (p.Asn457Asp) variant details
- p.Asn457Asp
- rs137853097
- ClinGen CA3382214
- ClinVar RCV000410433
- ClinVar RCV001387756
- Pathogenic
- Bifunctional peroxisomal enzyme deficiency; Perrault syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.692
- REVEL 0.73
- ESM-1b 1.00
- AlphaMissense 0.62
- MetaLR 0.73
- MetaSVM 0.57
- CADD 25.80
- ClinVar: Pathogenic (Bifunctional peroxisomal enzyme deficiency; Perrault syndrome)
- EBI: Pathogenic (in DBPD)
- UniProt: Pathogenic (in DBPD)
- Most common in the 1KG:YRI population (allele frequency 0.0043)
- Structural context available
- Cited in: Perrault Syndrome Overview. (PMID 25254289)