M1131I (p.Met1131Ile) variant of TSC2 (Tuberin)
M1131I (p.Met1131Ile) in TSC2 (Tuberin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Tuberous sclerosis 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
M1131I (p.Met1131Ile) variant details
- p.Met1131Ile
- rs1297504532
- ClinGen CA394286815
- ClinVar RCV001314305
- ClinVar RCV003469539
- Likely pathogenic
- Tuberous sclerosis 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.549
- REVEL 0.54
- AlphaMissense 0.16
- MetaLR 0.03
- MetaSVM -1.08
- CADD 24.10
- PolyPhen-2 0.93
- ClinVar: Likely pathogenic (Tuberous sclerosis 2)
- 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)