Q55* (p.Gln55Ter) variant of TSC1 (Hamartin)
Q55* (p.Gln55Ter) in TSC1 (Hamartin) 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 0.45 / 1. The record also includes published literature and structural context.
Q55* (p.Gln55Ter) variant details
- p.Gln55Ter
- rs118203343
- ClinGen CA005119
- cosmic curated COSV53765
- ClinVar RCV000042055
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.448
- AlphaMissense 0.07
- MetaLR 0.60
- MetaSVM -0.10
- PolyPhen-2 0.43
- SIFT 0.98
- EVE 0.12
- EBI: Pathogenic
- UniProt: Pathogenic
- 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)