L20G (p.Leu20Gly) variant of BTD (Biotinidase)
L20G (p.Leu20Gly) in BTD (Biotinidase) is a missense change. Clinical records from EBI and UniProt describe it as likely pathogenic. The record also includes published literature and structural context.
L20G (p.Leu20Gly) variant details
- p.Leu20Gly
- rs1553652080
- ClinGen CA658822114
- ClinVar RCV000664888
- Likely pathogenic
- Missense
- 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)