P56A (p.Pro56Ala) variant of TSC1 (Hamartin)
P56A (p.Pro56Ala) in TSC1 (Hamartin) is a missense change. Clinical records from EBI and UniProt describe it as benign. The record also includes structural context.
P56A (p.Pro56Ala) variant details
- p.Pro56Ala
- TOPMed rs1330089369
- gnomAD rs1330089369
- Benign
- Missense
- EBI: Benign
- UniProt: Benign
- Structural context available