A54D (p.Ala54Asp) variant of HSD17B4 (Peroxisomal multifunctional enzyme type 2)
A54D (p.Ala54Asp) 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 Inborn genetic diseases; Bifunctional peroxisomal enzyme deficiency; Perrault sy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
A54D (p.Ala54Asp) variant details
- p.Ala54Asp
- rs141517981
- ClinGen CA3381703
- ClinVar RCV000283002
- ClinVar RCV000342721
- Uncertain significance
- Inborn genetic diseases; Bifunctional peroxisomal enzyme deficiency; Perrault sy
- Missense
- Variant Prioritization Score for Impact Estimate 0.762
- REVEL 0.82
- ESM-1b 1.00
- AlphaMissense 0.61
- MetaLR 0.66
- MetaSVM 0.30
- CADD 26.20
- ClinVar: Uncertain significance (Inborn genetic diseases; Bifunctional peroxisomal enzyme deficie)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 0.0052)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)