I912V (p.Ile912Val) variant of TSC2 (Tuberin)
I912V (p.Ile912Val) in TSC2 (Tuberin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Tuberous sclerosis 2; Hereditary cancer-predisposing syndrome. 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.
I912V (p.Ile912Val) variant details
- p.Ile912Val
- rs748461293
- ClinGen CA041070
- ClinVar RCV001366524
- ClinVar RCV002438852
- Uncertain significance
- Tuberous sclerosis 2; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.713
- REVEL 0.69
- AlphaMissense 0.99
- MetaLR 0.89
- MetaSVM 1.00
- CADD 24.10
- PolyPhen-2 0.97
- ClinVar: Uncertain significance (Tuberous sclerosis 2; Hereditary cancer-predisposing syndrome)
- EBI: Benign
- UniProt: Benign
- Most common in the African/African-American population (allele frequency 3e-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)