I48F (p.Ile48Phe) variant of BTD (Biotinidase)
I48F (p.Ile48Phe) in BTD (Biotinidase) is a missense change. Clinical records from EBI and UniProt describe it as benign. The record also includes population frequency data and structural context.
I48F (p.Ile48Phe) variant details
- p.Ile48Phe
- 1000Genomes rs114092911
- ESP rs114092911
- ExAC rs114092911
- TOPMed rs114092911
- Benign
- Missense
- EBI: Benign
- UniProt: Benign
- Population evidence available
- Structural context available