M18L (p.Met18Leu) variant of TSC1 (Hamartin)
M18L (p.Met18Leu) 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 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
M18L (p.Met18Leu) variant details
- p.Met18Leu
- rs762059806
- ClinGen CA200902499
- ClinVar RCV003615237
- ClinVar RCV004950640
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Tuberous sclerosis 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.148
- REVEL 0.13
- AlphaMissense 0.07
- MetaLR 0.22
- MetaSVM -0.85
- CADD 1.32
- PolyPhen-2 0.00
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Tuberous sclerosis 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.5e-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)