H1746P (p.His1746Pro) variant of TSC2 (Tuberin)
H1746P (p.His1746Pro) in TSC2 (Tuberin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided; Isolated focal cortical dysplasia type II; Lymphangiomyomatosis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes published literature and structural context.
H1746P (p.His1746Pro) variant details
- p.His1746Pro
- rs2151631825
- ClinGen CA394314610
- ClinVar RCV001969546
- ClinVar RCV002497929
- Likely pathogenic
- not provided; Isolated focal cortical dysplasia type II; Lymphangiomyomatosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.709
- AlphaMissense 0.56
- MetaLR 0.82
- MetaSVM 0.72
- PolyPhen-2 0.99
- SIFT 0.24
- EVE 0.38
- ClinVar: Likely pathogenic (not provided; Isolated focal cortical dysplasia type II; Lymphan)
- 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)