E51D (p.Glu51Asp) variant of TSC1 (Hamartin)
E51D (p.Glu51Asp) 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; not provided; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
E51D (p.Glu51Asp) variant details
- p.Glu51Asp
- rs118203342
- ClinGen CA005036
- ClinVar RCV000042047
- ClinVar RCV000461171
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; not provided; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.505
- REVEL 0.51
- CADD 18.70
- PolyPhen-2 0.34
- SIFT 0.14
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; not provided; not speci)
- EBI: Benign (in TSC1)
- UniProt: Benign (in TSC1)
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- Cited in: Mutational spectrum of the TSC1 gene in a cohort of 225 tuberous sclerosis complex patients: no evidence for… (PMID 10227394)
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)