N457Y (p.Asn457Tyr) variant of HSD17B4 (Peroxisomal multifunctional enzyme type 2)
N457Y (p.Asn457Tyr) in HSD17B4 (Peroxisomal multifunctional enzyme type 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/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 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
N457Y (p.Asn457Tyr) variant details
- p.Asn457Tyr
- rs137853097
- ClinGen CA118961
- ClinVar RCV000008095
- ClinVar RCV000385297
- Pathogenic/Likely pathogenic
- Perrault syndrome; Bifunctional peroxisomal enzyme deficiency; Perrault syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.768
- REVEL 0.86
- ESM-1b 1.00
- AlphaMissense 0.67
- MetaLR 0.82
- MetaSVM 0.91
- CADD 26.80
- ClinVar: Pathogenic/Likely pathogenic (Perrault syndrome; Bifunctional peroxisomal enzyme deficiency; P)
- EBI: Pathogenic (in DBPD)
- UniProt: Pathogenic (in DBPD)
- Most common in the HGDP:SARDINIAN population (allele frequency 0.056)
- Structural context available
- Cited in: Enoyl-CoA hydratase deficiency: identification of a new type of D-bifunctional protein deficiency. (PMID 10400999)
- Cited in: Human peroxisomal multifunctional enzyme type 2. Site-directed mutagenesis studies show the importance of two protic… (PMID 10671535)