E51Q (p.Glu51Gln) variant of TSC1 (Hamartin)
E51Q (p.Glu51Gln) in TSC1 (Hamartin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Hereditary cancer-predisposing syndrome; Tuberous sclerosis 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
E51Q (p.Glu51Gln) variant details
- p.Glu51Gln
- rs1564503320
- ClinGen CA375375147
- ClinVar RCV002816247
- ClinVar RCV005301190
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; Tuberous sclerosis 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.563
- REVEL 0.43
- CADD 22.60
- PolyPhen-2 0.34
- SIFT 0.17
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; Tuberous sclerosis 1)
- EBI: Likely benign (in TSC1)
- UniProt: Likely benign (in TSC1)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)
- Cited in: Tuberous Sclerosis Complex. (PMID 20301399)