V59I (p.Val59Ile) variant of HSD17B4 (Peroxisomal multifunctional enzyme type 2)
V59I (p.Val59Ile) 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 not provided; Bifunctional peroxisomal enzyme deficiency; Perrault syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
V59I (p.Val59Ile) variant details
- p.Val59Ile
- rs375339818
- ClinGen CA243164
- ClinVar RCV000177063
- ClinVar RCV002516725
- Uncertain significance
- not provided; Bifunctional peroxisomal enzyme deficiency; Perrault syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.705
- REVEL 0.61
- ESM-1b 1.00
- AlphaMissense 0.23
- MetaLR 0.78
- MetaSVM 0.70
- CADD 26.50
- ClinVar: Uncertain significance (not provided; Bifunctional peroxisomal enzyme deficiency; Perrau)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BRAHUI population (allele frequency 0.065)
- 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)