L33F (p.Leu33Phe) variant of TSC1 (Hamartin)
L33F (p.Leu33Phe) in TSC1 (Hamartin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Isolated focal cortical dysplasia type II; Tuberous sclerosis syndrome; Heredita. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
L33F (p.Leu33Phe) variant details
- p.Leu33Phe
- rs1847031671
- ClinGen CA375375270
- cosmic curated COSV53769
- ClinVar RCV001067609
- Conflicting interpretations
- Isolated focal cortical dysplasia type II; Tuberous sclerosis syndrome; Heredita
- Missense
- Variant Prioritization Score for Impact Estimate 0.72
- REVEL 0.68
- CADD 26.50
- PolyPhen-2 0.77
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Isolated focal cortical dysplasia type II; Tuberous sclerosis sy)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- 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)