G43E (p.Gly43Glu) variant of HSD17B4 (Peroxisomal multifunctional enzyme type 2)
G43E (p.Gly43Glu) in HSD17B4 (Peroxisomal multifunctional enzyme type 2) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Bifunctional peroxisomal enzyme deficiency; Perrault syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
G43E (p.Gly43Glu) variant details
- p.Gly43Glu
- TOPMed rs1748304186
- Uncertain significance
- Bifunctional peroxisomal enzyme deficiency; Perrault syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.63
- REVEL 0.58
- ESM-1b 1.00
- AlphaMissense 0.53
- MetaLR 0.59
- MetaSVM 0.42
- CADD 25.60
- ClinVar: Uncertain significance (Bifunctional peroxisomal enzyme deficiency; Perrault syndrome)
- UniProt: Uncertain significance
- Most common in the HGDP:BRAHUI population (allele frequency 0.065)
- Structural context available