L10I (p.Leu10Ile) variant of TSC1 (Hamartin)
L10I (p.Leu10Ile) in TSC1 (Hamartin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Tuberous sclerosis 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes published literature and structural context.
L10I (p.Leu10Ile) variant details
- p.Leu10Ile
- rs1399717425
- ClinGen CA375375417
- ClinVar RCV001351635
- TOPMed rs1399717425
- Uncertain significance
- Tuberous sclerosis 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.705
- AlphaMissense 0.15
- MetaLR 0.90
- MetaSVM 0.98
- PolyPhen-2 0.99
- SIFT 0.02
- EVE 0.56
- ClinVar: Uncertain significance (Tuberous sclerosis 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)