Y418C (p.Tyr418Cys) variant of BTD (Biotinidase)
Y418C (p.Tyr418Cys) 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; BTD-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
Y418C (p.Tyr418Cys) variant details
- p.Tyr418Cys
- rs397514415
- ClinGen CA278324
- ClinVar RCV002651649
- Ensembl rs397514415
- Likely pathogenic
- Biotinidase deficiency; BTD-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.775
- REVEL 0.93
- CADD 28.70
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Likely pathogenic (Biotinidase deficiency; BTD-related disorder)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Biotinidase Deficiency. (PMID 20301497)
- Cited in: Clinical utility gene card for: biotinidase deficiency. (PMID 22378278)