R37H (p.Arg37His) variant of TSC1 (Hamartin)
R37H (p.Arg37His) 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 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
R37H (p.Arg37His) variant details
- p.Arg37His
- rs750441497
- ClinGen CA027051
- cosmic curated COSV53771
- ClinVar RCV000468501
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; not provided; Tuberous sclerosis syndro
- Missense
- Variant Prioritization Score for Impact Estimate 0.852
- REVEL 0.89
- CADD 28.50
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; not provided; Tuberous)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 8.8e-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)