M1I (p.Met1Ile) variant of TSC2 (Tuberin)
M1I (p.Met1Ile) 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 0.84 / 1. The record also includes published literature and structural context.
M1I (p.Met1Ile) variant details
- p.Met1Ile
- rs397515208
- ClinGen CA394300423
- ClinVar RCV000728954
- ClinGen CA019804
- Uncertain significance
- Tuberous sclerosis 2; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.836
- AlphaMissense 0.72
- MetaLR 0.85
- MetaSVM 0.88
- PolyPhen-2 0.74
- SIFT 0.00
- MutPred 1.00
- ClinVar: Uncertain significance (Tuberous sclerosis 2; Hereditary cancer-predisposing syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Tuberous Sclerosis Complex. (PMID 20301399)
- Cited in: Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions. (PMID 23519317)