G33S (p.Gly33Ser) variant of TSC2 (Tuberin)
G33S (p.Gly33Ser) in TSC2 (Tuberin) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
G33S (p.Gly33Ser) variant details
- p.Gly33Ser
- rs370230541
- ClinGen CA056868
- cosmic curated COSV10635
- ClinVar RCV000563255
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.407
- REVEL 0.15
- CADD 24.00
- PolyPhen-2 0.99
- SIFT 0.63
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)