L41I (p.Leu41Ile) variant of TSC1 (Hamartin)
L41I (p.Leu41Ile) 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; Tuberous sclerosis 1; Isolated focal co. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
L41I (p.Leu41Ile) variant details
- p.Leu41Ile
- rs118203334
- ClinGen CA004496
- ClinVar RCV000034600
- ClinVar RCV000054854
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; Tuberous sclerosis 1; Isolated focal co
- Missense
- Variant Prioritization Score for Impact Estimate 0.778
- REVEL 0.77
- CADD 27.20
- PolyPhen-2 0.98
- SIFT 0.04
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; Tuberous sclerosis 1; I)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 4e-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)