W135R (p.Trp135Arg) variant of HSD17B4 (Peroxisomal multifunctional enzyme type 2)
W135R (p.Trp135Arg) 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 0.87 / 1. The record also includes structural context.
W135R (p.Trp135Arg) variant details
- p.Trp135Arg
- TOPMed rs1580557550
- Likely pathogenic
- Bifunctional peroxisomal enzyme deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.871
- REVEL 0.89
- ESM-1b 1.00
- AlphaMissense 0.98
- MetaLR 0.74
- MetaSVM 0.62
- SIFT 0.00
- ClinVar: Likely pathogenic (Bifunctional peroxisomal enzyme deficiency)
- UniProt: Likely pathogenic
- Structural context available