T44A (p.Thr44Ala) variant of TSC1 (Hamartin)
T44A (p.Thr44Ala) in TSC1 (Hamartin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations 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 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
T44A (p.Thr44Ala) variant details
- p.Thr44Ala
- rs1399266964
- ClinGen CA375375194
- cosmic curated COSV10514
- ClinVar RCV000550137
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; Tuberous sclerosis syndrome; Tuberous s
- Missense
- Variant Prioritization Score for Impact Estimate 0.223
- REVEL 0.12
- CADD 18.50
- PolyPhen-2 0.06
- SIFT 0.36
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; Tuberous sclerosis synd)
- EBI: Benign
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 2.9e-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)