A55T (p.Ala55Thr) variant of HSD17B4 (Peroxisomal multifunctional enzyme type 2)
A55T (p.Ala55Thr) 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 Perrault syndrome; Bifunctional peroxisomal enzyme deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
A55T (p.Ala55Thr) variant details
- p.Ala55Thr
- rs780149071
- ClinGen CA3381705
- ClinVar RCV002012223
- ExAC rs780149071
- Uncertain significance
- Perrault syndrome; Bifunctional peroxisomal enzyme deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.813
- REVEL 0.80
- ESM-1b 1.00
- AlphaMissense 0.50
- MetaLR 0.81
- MetaSVM 0.77
- CADD 29.40
- ClinVar: Uncertain significance (Perrault syndrome; Bifunctional peroxisomal enzyme deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CHB population (allele frequency 0.015)
- Structural context available
- Cited in: Perrault Syndrome Overview. (PMID 25254289)