E26K (p.Glu26Lys) variant of BTD (Biotinidase)
E26K (p.Glu26Lys) in BTD (Biotinidase) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
E26K (p.Glu26Lys) variant details
- p.Glu26Lys
- Ensembl rs397514336
- Pathogenic
- Missense
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available