R190P (p.Arg190Pro) variant of TSC1 (Hamartin)
R190P (p.Arg190Pro) in TSC1 (Hamartin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Tuberous sclerosis 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes published literature and structural context.
R190P (p.Arg190Pro) variant details
- p.Arg190Pro
- rs118203402
- ClinGen CA007774
- NCI-TCGA Cosmic COSV1000
- NCI-TCGA Cosmic COSV5376
- Pathogenic
- Tuberous sclerosis 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.784
- AlphaMissense 0.61
- MetaLR 0.83
- MetaSVM 0.74
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.84
- ClinVar: Pathogenic (Tuberous sclerosis 1)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Tuberous Sclerosis Complex. (PMID 20301399)
- Cited in: Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions. (PMID 23519317)