E32Q (p.Glu32Gln) variant of TSC2 (Tuberin)
E32Q (p.Glu32Gln) in TSC2 (Tuberin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome; Tuberous sclerosis syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes published literature and structural context.
E32Q (p.Glu32Gln) variant details
- p.Glu32Gln
- rs2084679567
- ClinGen CA394301416
- NCI-TCGA Cosmic COSV9952
- cosmic curated COSV99526
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Tuberous sclerosis syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.46
- AlphaMissense 0.21
- MetaLR 0.37
- MetaSVM -0.35
- PolyPhen-2 0.99
- SIFT 0.03
- EVE 0.53
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Tuberous sclerosis synd)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)