L61R (p.Leu61Arg) variant of TSC1 (Hamartin)
L61R (p.Leu61Arg) in TSC1 (Hamartin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Tuberous sclerosis 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes published literature and structural context.
L61R (p.Leu61Arg) variant details
- p.Leu61Arg
- rs118203345
- ClinGen CA005458
- ClinVar RCV000054934
- ClinVar RCV000461024
- Likely pathogenic
- Tuberous sclerosis 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.922
- AlphaMissense 0.99
- MetaLR 0.90
- MetaSVM 1.00
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.87
- ClinVar: Likely pathogenic (Tuberous sclerosis 1)
- EBI: Pathogenic (in TSC1)
- UniProt: Pathogenic (in TSC1)
- Structural context available
- Cited in: Functional assessment of TSC1 missense variants identified in individuals with tuberous sclerosis complex. (PMID 22161988)
- Cited in: Tuberous Sclerosis Complex. (PMID 20301399)