D44V (p.Asp44Val) variant of HSD17B4 (Peroxisomal multifunctional enzyme type 2)
D44V (p.Asp44Val) in HSD17B4 (Peroxisomal multifunctional enzyme type 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Perrault syndrome; Bifunctional peroxisomal enzyme deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
D44V (p.Asp44Val) variant details
- p.Asp44Val
- rs200063597
- ClinGen CA125857517
- ClinVar RCV001882203
- Ensembl rs200063597
- Uncertain significance
- Perrault syndrome; Bifunctional peroxisomal enzyme deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.683
- REVEL 0.70
- ESM-1b 1.00
- AlphaMissense 0.37
- MetaLR 0.66
- MetaSVM 0.33
- CADD 25.40
- ClinVar: Uncertain significance (Perrault syndrome; Bifunctional peroxisomal enzyme deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BERGAMOITALIAN population (allele frequency 0.045)
- Structural context available
- Cited in: Perrault Syndrome Overview. (PMID 25254289)