G16S (p.Gly16Ser) variant of HSD17B4 (Peroxisomal multifunctional enzyme type 2)
G16S (p.Gly16Ser) in HSD17B4 (Peroxisomal multifunctional enzyme type 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of HSD17B4-related disorder; Bifunctional peroxisomal enzyme deficiency; Perrault s. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
G16S (p.Gly16Ser) variant details
- p.Gly16Ser
- rs137853096
- ClinGen CA118960
- ClinVar RCV000008094
- ClinVar RCV000415821
- Conflicting interpretations
- HSD17B4-related disorder; Bifunctional peroxisomal enzyme deficiency; Perrault s
- Missense
- Variant Prioritization Score for Impact Estimate 0.873
- REVEL 0.95
- ESM-1b 1.00
- AlphaMissense 0.94
- CADD 18.40
- PolyPhen-2 1.00
- SIFT 0.02
- ClinVar: Conflicting classifications of pathogenicity (HSD17B4-related disorder; Bifunctional peroxisomal enzyme defici)
- EBI: Pathogenic (in DBPD)
- UniProt: Pathogenic (in DBPD)
- Most common in the HGDP:PATHAN population (allele frequency 0.14)
- Structural context available
- Cited in: Human peroxisomal multifunctional enzyme type 2. Site-directed mutagenesis studies show the importance of two protic… (PMID 10671535)
- Cited in: Peroxisomal D-hydroxyacyl-CoA dehydrogenase deficiency: resolution of the enzyme defect and its molecular basis in… (PMID 9482850)