Y434D (p.Tyr434Asp) variant of BTD (Biotinidase)
Y434D (p.Tyr434Asp) in BTD (Biotinidase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Biotinidase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
Y434D (p.Tyr434Asp) variant details
- p.Tyr434Asp
- rs200507575
- ClinGen CA2277462
- ClinVar RCV003061466
- 1000Genomes rs200507575
- Likely pathogenic
- Biotinidase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.725
- REVEL 0.78
- CADD 27.50
- ClinVar: Likely pathogenic (Biotinidase deficiency)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the 1KG:CHS population (allele frequency 0.0049)
- Structural context available
- Cited in: Biotinidase Deficiency. (PMID 20301497)
- Cited in: Clinical utility gene card for: biotinidase deficiency. (PMID 22378278)