M1029V (p.Met1029Val) variant of TSC2 (Tuberin)
M1029V (p.Met1029Val) in TSC2 (Tuberin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome; not provided; Tuberous sclerosis 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
M1029V (p.Met1029Val) variant details
- p.Met1029Val
- rs780572757
- ClinGen CA394284637
- ClinVar RCV002325737
- ClinVar RCV003099180
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided; Tuberous sclerosis 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.713
- REVEL 0.79
- CADD 23.70
- PolyPhen-2 0.45
- SIFT 0.05
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; not provided; Tuberous)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-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)