R22W (p.Arg22Trp) variant of TSC1 (Hamartin)
R22W (p.Arg22Trp) in TSC1 (Hamartin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Hereditary cancer-predisposing syndrome; not provided; Tuberous sclerosis syndro. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
R22W (p.Arg22Trp) variant details
- p.Arg22Trp
- rs749030456
- ClinGen CA038317
- cosmic curated COSV53770
- ClinVar RCV000477710
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; not provided; Tuberous sclerosis syndro
- Missense
- Variant Prioritization Score for Impact Estimate 0.525
- REVEL 0.47
- CADD 24.60
- PolyPhen-2 0.85
- SIFT 0.02
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; not provided; Tuberous)
- EBI: Pathogenic (in FCORD2)
- UniProt: Pathogenic (in FCORD2)
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available
- Cited in: Somatic Mutations in TSC1 and TSC2 Cause Focal Cortical Dysplasia. (PMID 28215400)
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)