A419D (p.Ala419Asp) variant of BTD (Biotinidase)
A419D (p.Ala419Asp) in BTD (Biotinidase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Biotinidase deficiency; BTD-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes published literature and structural context.
A419D (p.Ala419Asp) variant details
- p.Ala419Asp
- rs779141922
- ClinGen CA351608535
- ClinVar RCV002664295
- Pathogenic/Likely pathogenic
- Biotinidase deficiency; BTD-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.623
- AlphaMissense 0.13
- MetaLR 0.76
- MetaSVM 0.46
- PolyPhen-2 0.80
- SIFT 0.26
- MutPred 0.59
- ClinVar: Pathogenic/Likely pathogenic (Biotinidase deficiency; BTD-related disorder)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Biotinidase Deficiency. (PMID 20301497)
- Cited in: Clinical utility gene card for: biotinidase deficiency. (PMID 22378278)