K34T (p.Lys34Thr) variant of TSC2 (Tuberin)
K34T (p.Lys34Thr) in TSC2 (Tuberin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
K34T (p.Lys34Thr) variant details
- p.Lys34Thr
- rs777988634
- ClinGen CA027975
- ClinVar RCV000189880
- ClinVar RCV000475609
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.16
- REVEL 0.15
- CADD 15.20
- PolyPhen-2 0.07
- SIFT 0.07
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Benign
- UniProt: Benign
- Most common in the African/African-American population (allele frequency 2.4e-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)