H33Q (p.His33Gln) variant of BTD (Biotinidase)
H33Q (p.His33Gln) in BTD (Biotinidase) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The record also includes structural context.
H33Q (p.His33Gln) variant details
- p.His33Gln
- ExAC rs397514337
- TOPMed rs397514337
- gnomAD rs397514337
- Likely benign
- Missense
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available