L45S (p.Leu45Ser) variant of TSC1 (Hamartin)
L45S (p.Leu45Ser) in TSC1 (Hamartin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Tuberous sclerosis 1; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes published literature and structural context.
L45S (p.Leu45Ser) variant details
- p.Leu45Ser
- rs1554820662
- ClinGen CA375375186
- ClinVar RCV000642007
- ClinVar RCV003432681
- Conflicting interpretations
- Tuberous sclerosis 1; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.903
- AlphaMissense 0.97
- MetaLR 0.87
- MetaSVM 0.94
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.89
- ClinVar: Conflicting classifications of pathogenicity (Tuberous sclerosis 1; not provided)
- EBI: Pathogenic
- UniProt: 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)