D36H (p.Asp36His) variant of TSC1 (Hamartin)
D36H (p.Asp36His) in TSC1 (Hamartin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Tuberous sclerosis 1; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes published literature and structural context.
D36H (p.Asp36His) variant details
- p.Asp36His
- rs1847030850
- ClinGen CA375375252
- ClinVar RCV001052201
- ClinVar RCV002256664
- Uncertain significance
- Tuberous sclerosis 1; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.719
- AlphaMissense 0.45
- MetaLR 0.77
- MetaSVM 0.53
- PolyPhen-2 0.77
- SIFT 0.01
- MutPred 0.65
- ClinVar: Uncertain significance (Tuberous sclerosis 1; Hereditary cancer-predisposing syndrome)
- 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)