P56R (p.Pro56Arg) variant of TSC1 (Hamartin)
P56R (p.Pro56Arg) in TSC1 (Hamartin) is a missense change. Clinical records from EBI and UniProt describe it as benign. The record also includes structural context.
P56R (p.Pro56Arg) variant details
- p.Pro56Arg
- ExAC rs750512029
- TOPMed rs750512029
- gnomAD rs750512029
- Benign
- Missense
- EBI: Benign
- UniProt: Benign
- Structural context available