R22L (p.Arg22Leu) variant of TSC1 (Hamartin)
R22L (p.Arg22Leu) in TSC1 (Hamartin) is a missense change. Clinical records from EBI and UniProt describe it as benign in the context of in FCORD2. The record also includes structural context.
R22L (p.Arg22Leu) variant details
- p.Arg22Leu
- ESP rs141736779
- ExAC rs141736779
- TOPMed rs141736779
- gnomAD rs141736779
- Benign
- in FCORD2
- Missense
- EBI: Benign (in FCORD2)
- UniProt: Benign (in FCORD2)
- Structural context available