N98S (p.Asn98Ser) variant of HSD17B4 (Peroxisomal multifunctional enzyme type 2)
N98S (p.Asn98Ser) in HSD17B4 (Peroxisomal multifunctional enzyme type 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Bifunctional peroxisomal enzyme deficiency; Perrault syndrome; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
N98S (p.Asn98Ser) variant details
- p.Asn98Ser
- rs1392361503
- ClinGen CA360864886
- ClinVar RCV001949665
- ClinVar RCV005406235
- Conflicting interpretations
- Bifunctional peroxisomal enzyme deficiency; Perrault syndrome; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.772
- REVEL 0.84
- ESM-1b 1.00
- AlphaMissense 0.25
- MetaLR 0.79
- MetaSVM 0.73
- CADD 27.40
- ClinVar: Conflicting classifications of pathogenicity (Bifunctional peroxisomal enzyme deficiency; Perrault syndrome; n)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the HGDP:CAMBODIAN population (allele frequency 0.25)
- Structural context available
- Cited in: Perrault Syndrome Overview. (PMID 25254289)