K12* (p.Lys12Ter) variant of TSC2 (Tuberin)
K12* (p.Lys12Ter) 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 0.74 / 1. The record also includes published literature and structural context.
K12* (p.Lys12Ter) variant details
- p.Lys12Ter
- rs45512692
- ClinGen CA019229
- ClinVar RCV000013202
- ClinVar RCV000042837
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.743
- AlphaMissense 0.63
- MetaLR 0.79
- MetaSVM 0.68
- PolyPhen-2 0.98
- SIFT 0.02
- EVE 0.70
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Identification of a nonsense mutation at the 5' end of the TSC2 gene in a family with a presumptive diagnosis of… (PMID 8825048)
- Cited in: Tuberous Sclerosis Complex. (PMID 20301399)