S9P (p.Ser9Pro) variant of TSC2 (Tuberin)
S9P (p.Ser9Pro) in TSC2 (Tuberin) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome; Tuberous sclerosis 2. The record also includes structural context.
S9P (p.Ser9Pro) variant details
- p.Ser9Pro
- Ensembl rs2150970332
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Tuberous sclerosis 2
- Missense
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Tuberous sclerosis 2)
- UniProt: Uncertain significance
- Structural context available