D424Y (p.Asp424Tyr) variant of BTD (Biotinidase)
D424Y (p.Asp424Tyr) 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 0.63 / 1. The record also includes population frequency data and structural context.
D424Y (p.Asp424Tyr) variant details
- p.Asp424Tyr
- 1000Genomes rs13078881
- ESP rs13078881
- ExAC rs13078881
- TOPMed rs13078881
- Likely pathogenic
- Biotinidase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.63
- REVEL 0.73
- CADD 23.50
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Likely pathogenic (Biotinidase deficiency)
- EBI: Pathogenic (in BTD deficiency)
- UniProt: Pathogenic (in BTD deficiency)
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available