T5A (p.Thr5Ala) variant of TSC2 (Tuberin)
T5A (p.Thr5Ala) 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 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
T5A (p.Thr5Ala) variant details
- p.Thr5Ala
- rs45517093
- ClinGen CA014750
- ClinVar RCV000042993
- ClinVar RCV000644262
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.124
- REVEL 0.16
- CADD 2.68
- PolyPhen-2 0.00
- SIFT 0.25
- 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)