R22P (p.Arg22Pro) variant of TSC1 (Hamartin)
R22P (p.Arg22Pro) in TSC1 (Hamartin) 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 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
R22P (p.Arg22Pro) variant details
- p.Arg22Pro
- rs141736779
- ClinGen CA375375343
- ClinVar RCV000559688
- ClinVar RCV006287203
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Tuberous sclerosis 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.276
- REVEL 0.27
- CADD 15.00
- PolyPhen-2 0.14
- SIFT 0.07
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Tuberous sclerosis 1)
- EBI: Benign (in FCORD2)
- UniProt: Benign (in FCORD2)
- Most common in the REMAINING population (allele frequency 1.7e-05)
- 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)