R37P (p.Arg37Pro) variant of TSC1 (Hamartin)
R37P (p.Arg37Pro) in TSC1 (Hamartin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Tuberous sclerosis 1. The record also includes structural context.
R37P (p.Arg37Pro) variant details
- p.Arg37Pro
- ExAC rs750441497
- TOPMed rs750441497
- gnomAD rs750441497
- Uncertain significance
- Tuberous sclerosis 1
- Missense
- ClinVar: Uncertain significance (Tuberous sclerosis 1)
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available