Q35* (p.Gln35Ter) variant of TSC2 (Tuberin)
Q35* (p.Gln35Ter) in TSC2 (Tuberin) is a protein-truncating change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes published literature and structural context.
Q35* (p.Gln35Ter) variant details
- p.Gln35Ter
- rs137854105
- ClinGen CA013636
- NCI-TCGA Cosmic COSV5459
- cosmic curated COSV54594
- Uncertain significance
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.413
- AlphaMissense 0.10
- MetaLR 0.33
- MetaSVM -0.65
- PolyPhen-2 0.86
- SIFT 0.33
- EVE 0.25
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)