E13D (p.Glu13Asp) variant of TSC2 (Tuberin)
E13D (p.Glu13Asp) in TSC2 (Tuberin) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
E13D (p.Glu13Asp) variant details
- p.Glu13Asp
- rs766814650
- ExAC rs766814650
- gnomAD rs766814650
- ClinGen CA049909
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.483
- REVEL 0.48
- CADD 23.80
- PolyPhen-2 0.95
- SIFT 0.41
- EBI: Benign
- UniProt: Benign
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- 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)