T1206P (p.Thr1206Pro) variant of TSC2 (Tuberin)
T1206P (p.Thr1206Pro) 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 0.66 / 1. The record also includes published literature and structural context.
T1206P (p.Thr1206Pro) variant details
- p.Thr1206Pro
- rs1348376140
- ClinGen CA394291424
- ClinVar RCV003512652
- Likely pathogenic
- Tuberous sclerosis 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.655
- AlphaMissense 0.46
- MetaLR 0.78
- MetaSVM 0.48
- PolyPhen-2 0.98
- SIFT 0.07
- EVE 0.34
- 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)