H515R (p.His515Arg) variant of HSD17B4 (Peroxisomal multifunctional enzyme type 2)
H515R (p.His515Arg) 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 0.98 / 1. The record also includes structural context.
H515R (p.His515Arg) variant details
- p.His515Arg
- rs1753477498
- ClinGen CA360869118
- ClinVar RCV001251043
- Ensembl rs1753477498
- Likely pathogenic
- Bifunctional peroxisomal enzyme deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.977
- ESM-1b 1.00
- AlphaMissense 0.92
- MetaLR 0.99
- MetaSVM 0.99
- PolyPhen-2 0.99
- SIFT 0.02
- ClinVar: Likely pathogenic (Bifunctional peroxisomal enzyme deficiency)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available