R190H (p.Arg190His) variant of TSC1 (Hamartin)
R190H (p.Arg190His) in TSC1 (Hamartin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Hereditary cancer-predisposing syndrome; Tuberous sclerosis 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
R190H (p.Arg190His) variant details
- p.Arg190His
- rs118203402
- ClinGen CA038150
- NCI-TCGA Cosmic COSV1000
- NCI-TCGA Cosmic COSV5376
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; Tuberous sclerosis 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.81
- REVEL 0.81
- AlphaMissense 0.61
- MetaLR 0.83
- MetaSVM 0.74
- CADD 29.40
- PolyPhen-2 1.00
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; Tuberous sclerosis 1)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the East Asian population (allele frequency 2.5e-05)
- 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)