G14L (p.Gly14Leu) variant of BTD (Biotinidase)
G14L (p.Gly14Leu) in BTD (Biotinidase) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes population frequency data, published literature, and structural context.
G14L (p.Gly14Leu) variant details
- p.Gly14Leu
- rs765906887
- ClinGen CA2277238
- ClinVar RCV000415039
- ClinVar RCV000987127
- Pathogenic
- Missense
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: Biotinidase Deficiency. (PMID 20301497)
- Cited in: Clinical utility gene card for: biotinidase deficiency. (PMID 22378278)