A54T (p.Ala54Thr) variant of HSD17B4 (Peroxisomal multifunctional enzyme type 2)
A54T (p.Ala54Thr) in HSD17B4 (Peroxisomal multifunctional enzyme type 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of HSD17B4-related disorder; Bifunctional peroxisomal enzyme deficiency; Perrault s. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
A54T (p.Ala54Thr) variant details
- p.Ala54Thr
- rs758207228
- ClinGen CA3381701
- ClinVar RCV001942349
- ClinVar RCV004587228
- Uncertain significance
- HSD17B4-related disorder; Bifunctional peroxisomal enzyme deficiency; Perrault s
- Missense
- Variant Prioritization Score for Impact Estimate 0.683
- REVEL 0.68
- ESM-1b 1.00
- AlphaMissense 0.16
- MetaLR 0.68
- MetaSVM 0.43
- CADD 25.80
- ClinVar: Uncertain significance (HSD17B4-related disorder; Bifunctional peroxisomal enzyme defici)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:CAMBODIAN population (allele frequency 0.25)
- Structural context available
- Cited in: Perrault Syndrome Overview. (PMID 25254289)