E44D (p.Glu44Asp) variant of BTD (Biotinidase)
E44D (p.Glu44Asp) in BTD (Biotinidase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; Biotinidase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.94 / 1. The record also includes published literature and structural context.
E44D (p.Glu44Asp) variant details
- p.Glu44Asp
- rs397514436
- ClinGen CA278386
- ClinVar RCV000032017
- ClinVar RCV000506513
- Conflicting interpretations
- not specified; Biotinidase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.941
- AlphaMissense 0.92
- MetaLR 0.95
- MetaSVM 1.02
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.83
- ClinVar: Conflicting classifications of pathogenicity (not specified; Biotinidase deficiency)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Biotinidase Deficiency. (PMID 20301497)
- Cited in: Clinical utility gene card for: biotinidase deficiency. (PMID 22378278)