F46L (p.Phe46Leu) variant of KRT5 (Keratin, type II cytoskeletal 5)
F46L (p.Phe46Leu) in KRT5 (Keratin, type II cytoskeletal 5) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The record also includes structural context.
F46L (p.Phe46Leu) variant details
- p.Phe46Leu
- ExAC rs777631293
- TOPMed rs777631293
- gnomAD rs777631293
- Likely benign
- Missense
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available