L5R (p.Leu5Arg) variant of HSD17B4 (Peroxisomal multifunctional enzyme type 2)
L5R (p.Leu5Arg) in HSD17B4 (Peroxisomal multifunctional enzyme type 2) is a missense change. Clinical records from ClinVar and UniProt describe it as likely pathogenic in the context of Bifunctional peroxisomal enzyme deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
L5R (p.Leu5Arg) variant details
- p.Leu5Arg
- TOPMed rs1158314495
- gnomAD rs1158314495
- Likely pathogenic
- Bifunctional peroxisomal enzyme deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.729
- REVEL 0.78
- ESM-1b 1.00
- AlphaMissense 0.51
- CADD 21.40
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Likely pathogenic (Bifunctional peroxisomal enzyme deficiency)
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available