G21P (p.Gly21Pro) variant of BTD (Biotinidase)
G21P (p.Gly21Pro) in BTD (Biotinidase) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.
G21P (p.Gly21Pro) variant details
- p.Gly21Pro
- rs2125453296
- ClinGen CA2499216563
- ClinVar RCV001389326
- Pathogenic
- Missense
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Biotinidase Deficiency. (PMID 20301497)
- Cited in: Clinical utility gene card for: biotinidase deficiency. (PMID 22378278)