T44S (p.Thr44Ser) variant of TSC1 (Hamartin)
T44S (p.Thr44Ser) in TSC1 (Hamartin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome; Tuberous sclerosis syndrome; Tuberous s. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
T44S (p.Thr44Ser) variant details
- p.Thr44Ser
- rs1399266964
- ClinGen CA375375195
- ClinVar RCV001010890
- ClinVar RCV003614063
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Tuberous sclerosis syndrome; Tuberous s
- Missense
- Variant Prioritization Score for Impact Estimate 0.214
- REVEL 0.11
- CADD 15.90
- PolyPhen-2 0.02
- SIFT 0.68
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Tuberous sclerosis synd)
- EBI: Benign
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 5.4e-06)
- 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)