L191R (p.Leu191Arg) variant of TSC1 (Hamartin)
L191R (p.Leu191Arg) 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 0.94 / 1. The record also includes published literature and structural context.
L191R (p.Leu191Arg) variant details
- p.Leu191Arg
- rs118203403
- ClinGen CA007790
- ClinVar RCV000042314
- ClinVar RCV002266912
- Pathogenic
- 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 (Tuberous sclerosis 1)
- EBI: Pathogenic (in TSC1)
- UniProt: Pathogenic (in TSC1)
- 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)