L50V (p.Leu50Val) variant of TSC1 (Hamartin)
L50V (p.Leu50Val) in TSC1 (Hamartin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome; Tuberous sclerosis 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes published literature and structural context.
L50V (p.Leu50Val) variant details
- p.Leu50Val
- rs2132268675
- ClinGen CA375375151
- ClinVar RCV001938000
- ClinVar RCV002388820
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Tuberous sclerosis 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.561
- AlphaMissense 0.11
- MetaLR 0.75
- MetaSVM 0.37
- PolyPhen-2 0.93
- SIFT 0.11
- EVE 0.27
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Tuberous sclerosis 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)