L93Q (p.Leu93Gln) variant of TSC1 (Hamartin)
L93Q (p.Leu93Gln) 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 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
L93Q (p.Leu93Gln) variant details
- p.Leu93Gln
- rs118203363
- ClinGen CA375374611
- ClinVar RCV001281332
- Ensembl rs118203363
- Likely pathogenic
- Tuberous sclerosis 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.794
- REVEL 0.89
- AlphaMissense 0.98
- MetaLR 0.65
- MetaSVM 0.43
- CADD 32.00
- PolyPhen-2 1.00
- ClinVar: Likely pathogenic (Tuberous sclerosis 1)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the African/African-American population (allele frequency 3e-05)
- 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)