R1056S (p.Arg1056Ser) variant of TSC2 (Tuberin)
R1056S (p.Arg1056Ser) in TSC2 (Tuberin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Tuberous sclerosis 2. The record also includes structural context.
R1056S (p.Arg1056Ser) variant details
- p.Arg1056Ser
- gnomAD rs1240555646
- Pathogenic
- Tuberous sclerosis 2
- Missense
- ClinVar: Pathogenic (Tuberous sclerosis 2)
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available