L405F (p.Leu405Phe) variant of HSD17B4 (Peroxisomal multifunctional enzyme type 2)
L405F (p.Leu405Phe) 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 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
L405F (p.Leu405Phe) variant details
- p.Leu405Phe
- rs746616691
- ClinGen CA3382134
- ClinVar RCV000626126
- ClinVar RCV001157690
- Uncertain significance
- not provided; Bifunctional peroxisomal enzyme deficiency; Perrault syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.766
- REVEL 0.78
- ESM-1b 1.00
- AlphaMissense 0.63
- MetaLR 0.85
- MetaSVM 0.84
- CADD 26.60
- ClinVar: Uncertain significance (not provided; Bifunctional peroxisomal enzyme deficiency; Perrau)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:PATHAN population (allele frequency 0.14)
- 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)