L41F (p.Leu41Phe) variant of TSC1 (Hamartin)
L41F (p.Leu41Phe) 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; TSC1-related disorder; Tuberous scleros. 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.
L41F (p.Leu41Phe) variant details
- p.Leu41Phe
- rs118203334
- ClinGen CA027330
- ClinVar RCV000525235
- ClinVar RCV001010403
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; TSC1-related disorder; Tuberous scleros
- Missense
- Variant Prioritization Score for Impact Estimate 0.848
- REVEL 0.88
- CADD 28.80
- PolyPhen-2 0.91
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; TSC1-related disorder;)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 2.4e-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)