E32G (p.Glu32Gly) variant of TSC2 (Tuberin)
E32G (p.Glu32Gly) 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 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
E32G (p.Glu32Gly) variant details
- p.Glu32Gly
- rs1482573368
- ClinGen CA394301421
- ClinVar RCV001070398
- ClinVar RCV002379624
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.485
- REVEL 0.39
- AlphaMissense 1.00
- MetaLR 0.32
- MetaSVM -0.40
- CADD 32.00
- PolyPhen-2 0.97
- EBI: Benign
- UniProt: Benign
- Most common in the East Asian population (allele frequency 0.00019)
- 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)