E31K (p.Glu31Lys) variant of HSD17B4 (Peroxisomal multifunctional enzyme type 2)
E31K (p.Glu31Lys) 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 Perrault syndrome; Bifunctional peroxisomal enzyme deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
E31K (p.Glu31Lys) variant details
- p.Glu31Lys
- TOPMed rs1188838605
- gnomAD rs1188838605
- Uncertain significance
- Perrault syndrome; Bifunctional peroxisomal enzyme deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.532
- REVEL 0.40
- ESM-1b 1.00
- AlphaMissense 0.15
- MetaLR 0.51
- MetaSVM -0.15
- CADD 26.90
- ClinVar: Uncertain significance (Perrault syndrome; Bifunctional peroxisomal enzyme deficiency)
- UniProt: Uncertain significance
- Most common in the 1KG:ACB population (allele frequency 0.038)
- Structural context available