D523E (p.Asp523Glu) variant of BTD (Biotinidase)
D523E (p.Asp523Glu) in BTD (Biotinidase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of BTD-related disorder; not provided; Biotinidase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
D523E (p.Asp523Glu) variant details
- p.Asp523Glu
- ESP rs146136265
- ExAC rs146136265
- TOPMed rs146136265
- gnomAD rs146136265
- Pathogenic/Likely pathogenic
- BTD-related disorder; not provided; Biotinidase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.591
- REVEL 0.67
- AlphaMissense 0.58
- MetaLR 0.80
- MetaSVM 0.45
- CADD 23.30
- PolyPhen-2 0.99
- ClinVar: Pathogenic/Likely pathogenic (BTD-related disorder; not provided; Biotinidase deficiency)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the African/African-American population (allele frequency 0.0007)
- Structural context available