L113F (p.Leu113Phe) variant of CLN3 (Battenin)
L113F (p.Leu113Phe) in CLN3 (Battenin) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The record also includes population frequency data and structural context.
L113F (p.Leu113Phe) variant details
- p.Leu113Phe
- 1000Genomes rs200356262
- ExAC rs200356262
- TOPMed rs200356262
- gnomAD rs200356262
- Likely benign
- Missense
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available