K7T (p.Lys7Thr) variant of TSC2 (Tuberin)
K7T (p.Lys7Thr) in TSC2 (Tuberin) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes published literature and structural context.
K7T (p.Lys7Thr) variant details
- p.Lys7Thr
- rs137854215
- ClinGen CA394300618
- cosmic curated COSV54592
- ClinVar RCV001213412
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.433
- AlphaMissense 0.72
- MetaLR 0.39
- MetaSVM -0.28
- PolyPhen-2 0.99
- SIFT 0.00
- MutPred 0.16
- EBI: Benign
- UniProt: Benign
- 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)