A100S (p.Ala100Ser) variant of HSD17B4 (Peroxisomal multifunctional enzyme type 2)
A100S (p.Ala100Ser) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes published literature and structural context.
A100S (p.Ala100Ser) variant details
- p.Ala100Ser
- rs1554062352
- ClinGen CA360864901
- ClinVar RCV000673049
- ClinVar RCV001861817
- Likely pathogenic
- Perrault syndrome; Bifunctional peroxisomal enzyme deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.891
- ESM-1b 1.00
- AlphaMissense 0.51
- MetaLR 0.94
- MetaSVM 1.07
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Perrault syndrome; Bifunctional peroxisomal enzyme deficiency)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Perrault Syndrome Overview. (PMID 25254289)