N176D (p.Asn176Asp) variant of HSD17B4 (Peroxisomal multifunctional enzyme type 2)
N176D (p.Asn176Asp) 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; Perrault syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
N176D (p.Asn176Asp) variant details
- p.Asn176Asp
- rs775766910
- ClinGen CA236237
- ClinVar RCV000171385
- ClinVar RCV003317125
- Likely pathogenic
- Perrault syndrome; Bifunctional peroxisomal enzyme deficiency; Perrault syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.723
- REVEL 0.76
- ESM-1b 1.00
- AlphaMissense 0.35
- MetaLR 0.70
- MetaSVM 0.53
- CADD 27.00
- ClinVar: Likely pathogenic (Perrault syndrome; Bifunctional peroxisomal enzyme deficiency; P)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the HGDP:YORUBA population (allele frequency 0.024)
- Structural context available
- Cited in: Perrault Syndrome Overview. (PMID 25254289)