C535F (p.Cys535Phe) variant of HSD17B4 (Peroxisomal multifunctional enzyme type 2)
C535F (p.Cys535Phe) 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 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.99 / 1. The record also includes published literature and structural context.
C535F (p.Cys535Phe) variant details
- p.Cys535Phe
- rs2531912062
- ClinGen CA360869262
- ClinVar RCV003990270
- cosmic curated COSV56335
- Likely pathogenic
- Perrault syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.985
- ESM-1b 1.00
- AlphaMissense 0.97
- ClinVar: Likely pathogenic (Perrault syndrome 1)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Perrault Syndrome Overview. (PMID 25254289)