T36M (p.Thr36Met) variant of TSC2 (Tuberin)
T36M (p.Thr36Met) 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 0.47 / 1. The record also includes published literature and structural context.
T36M (p.Thr36Met) variant details
- p.Thr36Met
- rs376280172
- ClinGen CA276768616
- ClinVar RCV001371341
- ClinVar RCV004006829
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.474
- AlphaMissense 0.10
- MetaLR 0.42
- MetaSVM -0.31
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.60
- EBI: Likely benign
- UniProt: Likely benign
- 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)