Q4* (p.Gln4Ter) variant of TSC1 (Hamartin)
Q4* (p.Gln4Ter) 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 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
Q4* (p.Gln4Ter) variant details
- p.Gln4Ter
- rs753838459
- ClinGen CA027033
- ClinVar RCV000807651
- ClinVar RCV003442093
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.672
- CADD 36.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)
- Cited in: Tuberous Sclerosis Complex. (PMID 20301399)