L191H (p.Leu191His) variant of TSC1 (Hamartin)
L191H (p.Leu191His) in TSC1 (Hamartin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Hereditary cancer-predisposing syndrome; Tuberous sclerosis 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.94 / 1. The record also includes published literature and structural context.
L191H (p.Leu191His) variant details
- p.Leu191His
- rs118203403
- ClinGen CA007782
- cosmic curated COSV53768
- ClinVar RCV000042313
- Pathogenic/Likely pathogenic
- Hereditary cancer-predisposing syndrome; Tuberous sclerosis 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.937
- AlphaMissense 0.99
- MetaLR 0.92
- MetaSVM 1.05
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.90
- ClinVar: Pathogenic/Likely pathogenic (Hereditary cancer-predisposing syndrome; Tuberous sclerosis 1)
- EBI: Pathogenic (in TSC1)
- UniProt: Pathogenic (in TSC1)
- Structural context available
- Cited in: Missense mutations to the TSC1 gene cause tuberous sclerosis complex. (PMID 18830229)
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)