Y434C (p.Tyr434Cys) variant of BTD (Biotinidase)
Y434C (p.Tyr434Cys) in BTD (Biotinidase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Possible mitochondrial disorder - nuclear genes; not provided; Biotinidase defic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
Y434C (p.Tyr434Cys) variant details
- p.Tyr434Cys
- rs397514345
- ClinGen CA2277463
- cosmic curated COSV57730
- ClinVar RCV000524591
- Uncertain significance
- Possible mitochondrial disorder - nuclear genes; not provided; Biotinidase defic
- Missense
- Variant Prioritization Score for Impact Estimate 0.694
- REVEL 0.87
- CADD 27.90
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the 1KG:PJL population (allele frequency 0.0052)
- Structural context available
- Cited in: Biotinidase Deficiency. (PMID 20301497)
- Cited in: Clinical utility gene card for: biotinidase deficiency. (PMID 22378278)