G22* (p.Gly22Ter) variant of TSC2 (Tuberin)
G22* (p.Gly22Ter) in TSC2 (Tuberin) is a protein-truncating change. Clinical records from EBI and UniProt describe it as benign. The record also includes structural context.
G22* (p.Gly22Ter) variant details
- p.Gly22Ter
- cosmic curated COSV54594
- gnomAD rs1479698846
- Benign
- Stop Gained
- EBI: Benign
- UniProt: Benign
- Structural context available