A2P (p.Ala2Pro) variant of TSC2 (Tuberin)
A2P (p.Ala2Pro) in TSC2 (Tuberin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Tuberous sclerosis 2; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes published literature and structural context.
A2P (p.Ala2Pro) variant details
- p.Ala2Pro
- rs769400464
- ClinGen CA394300434
- ClinVar RCV002343059
- ClinVar RCV006470796
- Uncertain significance
- Tuberous sclerosis 2; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.664
- AlphaMissense 0.13
- MetaLR 0.80
- MetaSVM 0.65
- PolyPhen-2 0.99
- SIFT 0.41
- MutPred 0.20
- ClinVar: Uncertain significance (Tuberous sclerosis 2; Hereditary cancer-predisposing syndrome)
- EBI: Benign
- UniProt: 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)