G8E (p.Gly8Glu) variant of TSC1 (Hamartin)
G8E (p.Gly8Glu) 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 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
G8E (p.Gly8Glu) variant details
- p.Gly8Glu
- rs1269896419
- ClinGen CA375375428
- cosmic curated COSV53775
- ClinVar RCV001886145
- Uncertain significance
- Tuberous sclerosis 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.509
- REVEL 0.42
- AlphaMissense 0.17
- MetaLR 0.64
- MetaSVM 0.13
- CADD 22.50
- PolyPhen-2 0.11
- ClinVar: Uncertain significance (Tuberous sclerosis 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-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)