I912T (p.Ile912Thr) variant of TSC2 (Tuberin)
I912T (p.Ile912Thr) 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 0.89 / 1. The record also includes published literature and structural context.
I912T (p.Ile912Thr) variant details
- p.Ile912Thr
- rs2151389141
- ClinGen CA394279601
- ClinVar RCV003627415
- Ensembl rs2151389141
- Likely pathogenic
- Tuberous sclerosis 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.885
- AlphaMissense 0.99
- MetaLR 0.89
- MetaSVM 0.99
- PolyPhen-2 0.97
- SIFT 0.00
- EVE 0.76
- ClinVar: Likely pathogenic (Tuberous sclerosis 2)
- 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)