M13L (p.Met13Leu) variant of TSC1 (Hamartin)
M13L (p.Met13Leu) in TSC1 (Hamartin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Tuberous sclerosis 1; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes published literature and structural context.
M13L (p.Met13Leu) variant details
- p.Met13Leu
- rs768147590
- ClinGen CA375375399
- ClinVar RCV002355163
- ClinVar RCV003505217
- Uncertain significance
- Tuberous sclerosis 1; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.382
- AlphaMissense 0.09
- MetaLR 0.38
- MetaSVM -0.56
- PolyPhen-2 0.01
- SIFT 1.00
- EVE 0.07
- ClinVar: Uncertain significance (Tuberous sclerosis 1; Hereditary cancer-predisposing syndrome)
- 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)