P28L (p.Pro28Leu) variant of TSC2 (Tuberin)
P28L (p.Pro28Leu) in TSC2 (Tuberin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Tuberous sclerosis 2; Hereditary cancer-predisposing syndrome. The record also includes structural context.
P28L (p.Pro28Leu) variant details
- p.Pro28Leu
- TOPMed rs1057522105
- gnomAD rs1057522105
- Uncertain significance
- Tuberous sclerosis 2; Hereditary cancer-predisposing syndrome
- Missense
- ClinVar: Uncertain significance (Tuberous sclerosis 2; Hereditary cancer-predisposing syndrome)
- EBI: Benign
- UniProt: Benign
- Structural context available