M1029L (p.Met1029Leu) variant of TSC2 (Tuberin)
M1029L (p.Met1029Leu) in TSC2 (Tuberin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Tuberous sclerosis 2; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
M1029L (p.Met1029Leu) variant details
- p.Met1029Leu
- rs780572757
- ExAC rs780572757
- gnomAD rs780572757
- ClinGen CA044140
- Conflicting interpretations
- Tuberous sclerosis 2; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.675
- REVEL 0.72
- CADD 23.50
- PolyPhen-2 0.45
- SIFT 0.41
- ClinVar: Conflicting classifications of pathogenicity (Tuberous sclerosis 2; Hereditary cancer-predisposing syndrome)
- EBI: Benign
- UniProt: Benign
- Most common in the East Asian population (allele frequency 2.5e-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)