M18I (p.Met18Ile) variant of TSC1 (Hamartin)
M18I (p.Met18Ile) in TSC1 (Hamartin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Hereditary cancer-predisposing syndrome; Tuberous sclerosis syndrome; Tuberous s. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
M18I (p.Met18Ile) variant details
- p.Met18Ile
- rs940292214
- NCI-TCGA TCGA novel
- TOPMed rs940292214
- ClinGen CA16612657
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; Tuberous sclerosis syndrome; Tuberous s
- Missense
- Variant Prioritization Score for Impact Estimate 0.185
- REVEL 0.14
- CADD 6.64
- PolyPhen-2 0.00
- SIFT 0.20
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; Tuberous sclerosis synd)
- EBI: Benign
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- 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)