L45F (p.Leu45Phe) variant of TSC1 (Hamartin)
L45F (p.Leu45Phe) 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 syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes published literature and structural context.
L45F (p.Leu45Phe) variant details
- p.Leu45Phe
- rs149278759
- ESP rs149278759
- ExAC rs149278759
- TOPMed rs149278759
- Uncertain significance
- Tuberous sclerosis syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.838
- AlphaMissense 0.56
- MetaLR 0.88
- MetaSVM 0.94
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.89
- ClinVar: Uncertain significance (Tuberous sclerosis syndrome)
- EBI: Benign
- UniProt: Benign
- 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)