T36A (p.Thr36Ala) variant of TSC2 (Tuberin)
T36A (p.Thr36Ala) in TSC2 (Tuberin) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
T36A (p.Thr36Ala) variant details
- p.Thr36Ala
- rs757113497
- ClinGen CA028094
- ClinVar RCV000189881
- ClinVar RCV000467572
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.398
- REVEL 0.23
- CADD 24.20
- PolyPhen-2 0.95
- SIFT 0.11
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Latino/Admixed American population (allele frequency 6.5e-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)