H532R (p.His532Arg) variant of HSD17B4 (Peroxisomal multifunctional enzyme type 2)
H532R (p.His532Arg) in HSD17B4 (Peroxisomal multifunctional enzyme type 2) is a missense change. Clinical records from ClinVar, EBI, 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 0.95 / 1. The record also includes structural context.
H532R (p.His532Arg) variant details
- p.His532Arg
- rs1554068272
- ClinGen CA360869241
- ClinVar RCV000664831
- Ensembl rs1554068272
- Likely pathogenic
- Bifunctional peroxisomal enzyme deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.945
- ESM-1b 1.00
- AlphaMissense 0.88
- MetaLR 0.89
- MetaSVM 1.04
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Bifunctional peroxisomal enzyme deficiency)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available