E13K (p.Glu13Lys) variant of TSC2 (Tuberin)
E13K (p.Glu13Lys) in TSC2 (Tuberin) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
E13K (p.Glu13Lys) variant details
- p.Glu13Lys
- rs1555494586
- ClinGen CA394300845
- ClinVar RCV000562925
- ClinVar RCV001853810
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.757
- REVEL 0.71
- CADD 32.00
- PolyPhen-2 0.95
- SIFT 0.01
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-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)