R622G (p.Arg622Gly) variant of TSC2 (Tuberin)
R622G (p.Arg622Gly) 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 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
R622G (p.Arg622Gly) variant details
- p.Arg622Gly
- rs397514914
- ClinGen CA394273075
- ClinVar RCV004518808
- ClinVar RCV005100745
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Tuberous sclerosis 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.82
- REVEL 0.92
- CADD 27.60
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Tuberous sclerosis 2)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- 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)