C166R (p.Cys166Arg) variant of BTD (Biotinidase)
C166R (p.Cys166Arg) 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 0.92 / 1. The record also includes published literature and structural context.
C166R (p.Cys166Arg) variant details
- p.Cys166Arg
- rs955385869
- ClinGen CA351606362
- ClinVar RCV001299844
- Ensembl rs955385869
- Likely pathogenic
- Biotinidase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.923
- AlphaMissense 0.85
- MetaLR 0.94
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.80
- ClinVar: Likely pathogenic (Biotinidase deficiency)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Biotinidase Deficiency. (PMID 20301497)
- Cited in: Clinical utility gene card for: biotinidase deficiency. (PMID 22378278)