G132D (p.Gly132Asp) variant of TSC1 (Hamartin)
G132D (p.Gly132Asp) in TSC1 (Hamartin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Tuberous sclerosis 1; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes published literature and structural context.
G132D (p.Gly132Asp) variant details
- p.Gly132Asp
- rs397514784
- ClinGen CA007549
- cosmic curated COSV53770
- ClinVar RCV000054889
- Likely pathogenic
- Tuberous sclerosis 1; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.862
- AlphaMissense 0.99
- MetaLR 0.82
- MetaSVM 0.82
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.88
- ClinVar: Likely pathogenic (Tuberous sclerosis 1; Hereditary cancer-predisposing syndrome)
- EBI: Likely pathogenic (in TSC1)
- UniProt: Likely pathogenic (in TSC1)
- Structural context available
- Cited in: Functional assessment of TSC1 missense variants identified in individuals with tuberous sclerosis complex. (PMID 22161988)
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)