H59L (p.His59Leu) variant of TSC1 (Hamartin)
H59L (p.His59Leu) in TSC1 (Hamartin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of Hereditary cancer-predisposing syndrome; Tuberous sclerosis 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
H59L (p.His59Leu) variant details
- p.His59Leu
- rs757837986
- ClinGen CA029689
- ClinVar RCV001518037
- ClinVar RCV005749674
- Benign/Likely benign
- Hereditary cancer-predisposing syndrome; Tuberous sclerosis 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.481
- REVEL 0.41
- AlphaMissense 0.28
- MetaLR 0.61
- MetaSVM 0.13
- CADD 21.60
- PolyPhen-2 0.76
- ClinVar: Benign/Likely benign (Hereditary cancer-predisposing syndrome; Tuberous sclerosis 1)
- EBI: Benign
- UniProt: Benign
- Most common in the South Asian population (allele frequency 0.00021)
- 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)