G22A (p.Gly22Ala) variant of TSC2 (Tuberin)
G22A (p.Gly22Ala) 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 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
G22A (p.Gly22Ala) variant details
- p.Gly22Ala
- rs2084676497
- ClinGen CA394301171
- ClinVar RCV001320097
- ClinVar RCV006287400
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.3
- CADD 7.45
- 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)