R22Q (p.Arg22Gln) variant of TSC1 (Hamartin)
R22Q (p.Arg22Gln) in TSC1 (Hamartin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Tuberous sclerosis 1; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
R22Q (p.Arg22Gln) variant details
- p.Arg22Gln
- rs141736779
- ClinGen CA038390
- cosmic curated COSV10966
- ClinVar RCV000542889
- Conflicting interpretations
- Tuberous sclerosis 1; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.161
- REVEL 0.08
- CADD 13.80
- PolyPhen-2 0.01
- SIFT 0.21
- ClinVar: Conflicting classifications of pathogenicity (Tuberous sclerosis 1; Hereditary cancer-predisposing syndrome)
- EBI: Benign (in FCORD2)
- UniProt: Benign (in FCORD2)
- Most common in the South Asian population (allele frequency 0.00014)
- 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)