S372F (p.Ser372Phe) variant of HSD17B4 (Peroxisomal multifunctional enzyme type 2)
S372F (p.Ser372Phe) 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; Bifunctional peroxisomal enzyme deficiency; Perrault syndro. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
S372F (p.Ser372Phe) variant details
- p.Ser372Phe
- rs1198548214
- ClinGen CA360868161
- ClinVar RCV002022920
- ClinVar RCV004732495
- Likely pathogenic
- Perrault syndrome 1; Bifunctional peroxisomal enzyme deficiency; Perrault syndro
- Missense
- Variant Prioritization Score for Impact Estimate 0.704
- REVEL 0.75
- ESM-1b 1.00
- AlphaMissense 0.19
- MetaLR 0.72
- MetaSVM 0.61
- CADD 24.50
- ClinVar: Likely pathogenic (Perrault syndrome 1; Bifunctional peroxisomal enzyme deficiency;)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Cited in: Perrault Syndrome Overview. (PMID 25254289)