S9* (p.Ser9Ter) variant of TSC2 (Tuberin)
S9* (p.Ser9Ter) in TSC2 (Tuberin) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
S9* (p.Ser9Ter) variant details
- p.Ser9Ter
- rs397515228
- ClinGen CA017918
- ClinVar RCV000055535
- ClinVar RCV001248431
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.746
- CADD 37.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Tuberous Sclerosis Complex. (PMID 20301399)
- Cited in: Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions. (PMID 23519317)