D117V (p.Asp117Val) variant of HSD17B4 (Peroxisomal multifunctional enzyme type 2)
D117V (p.Asp117Val) in HSD17B4 (Peroxisomal multifunctional enzyme type 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Bifunctional peroxisomal enzyme deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data and structural context.
D117V (p.Asp117Val) variant details
- p.Asp117Val
- rs1447689394
- ClinGen CA360865038
- ClinVar RCV003469847
- TOPMed rs1447689394
- Pathogenic/Likely pathogenic
- Bifunctional peroxisomal enzyme deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.818
- REVEL 0.88
- ESM-1b 1.00
- AlphaMissense 0.59
- MetaLR 0.81
- MetaSVM 0.71
- CADD 33.00
- ClinVar: Pathogenic/Likely pathogenic (Bifunctional peroxisomal enzyme deficiency)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the HGDP:YORUBA population (allele frequency 0.19)
- Structural context available