H1019P (p.His1019Pro) variant of TSC2 (Tuberin)
H1019P (p.His1019Pro) 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 0.82 / 1. The record also includes published literature and structural context.
H1019P (p.His1019Pro) variant details
- p.His1019Pro
- rs1555510317
- ClinGen CA394284351
- ClinVar RCV000569050
- ClinVar RCV001297342
- Likely pathogenic
- Tuberous sclerosis 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.825
- AlphaMissense 0.72
- MetaLR 0.86
- MetaSVM 0.90
- PolyPhen-2 0.97
- SIFT 0.00
- EVE 0.73
- ClinVar: Likely pathogenic (Tuberous sclerosis 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)