L10F (p.Leu10Phe) variant of TSC1 (Hamartin)
L10F (p.Leu10Phe) in TSC1 (Hamartin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Tuberous sclerosis 1; not provided; Hereditary cancer-predisposing syndrome. 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.
L10F (p.Leu10Phe) variant details
- p.Leu10Phe
- rs1399717425
- ClinGen CA375375415
- ClinVar RCV000642023
- ClinVar RCV001771877
- Conflicting interpretations
- Tuberous sclerosis 1; not provided; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.777
- REVEL 0.81
- AlphaMissense 0.15
- MetaLR 0.90
- MetaSVM 0.98
- CADD 25.20
- PolyPhen-2 0.99
- ClinVar: Conflicting classifications of pathogenicity (Tuberous sclerosis 1; not provided; Hereditary cancer-predisposi)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-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)