R106P (p.Arg106Pro) variant of HSD17B4 (Peroxisomal multifunctional enzyme type 2)
R106P (p.Arg106Pro) in HSD17B4 (Peroxisomal multifunctional enzyme type 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as 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, published literature, and structural context.
R106P (p.Arg106Pro) variant details
- p.Arg106Pro
- rs25640
- ClinGen CA118962
- ClinVar RCV000008096
- UniProt VAR 065906
- Pathogenic
- Bifunctional peroxisomal enzyme deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.734
- REVEL 0.89
- ESM-1b 1.00
- AlphaMissense 0.92
- MetaLR 0.63
- MetaSVM 0.37
- CADD 28.60
- ClinVar: Pathogenic (Bifunctional peroxisomal enzyme deficiency)
- EBI: Pathogenic (in DBPD)
- UniProt: Pathogenic (in DBPD)
- Most common in the Ashkenazi Jewish population (allele frequency 0.0052)
- Structural context available
- Cited in: D-bifunctional protein deficiency with fetal ascites, polyhydramnios, and contractures of hands and toes. (PMID 11743515)
- Cited in: Enoyl-CoA hydratase deficiency: identification of a new type of D-bifunctional protein deficiency. (PMID 10400999)