C166W (p.Cys166Trp) variant of BTD (Biotinidase)
C166W (p.Cys166Trp) in BTD (Biotinidase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance 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.
C166W (p.Cys166Trp) variant details
- p.Cys166Trp
- rs2125500615
- ClinGen CA351606371
- ClinVar RCV001580645
- Ensembl rs2125500615
- Uncertain significance
- Biotinidase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.924
- AlphaMissense 0.91
- MetaLR 0.93
- MetaSVM 1.04
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.79
- ClinVar: Uncertain significance (Biotinidase deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Biotinidase Deficiency. (PMID 20301497)
- Cited in: Clinical utility gene card for: biotinidase deficiency. (PMID 22378278)