E32K (p.Glu32Lys) variant of TSC2 (Tuberin)
E32K (p.Glu32Lys) 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 0.46 / 1. The record also includes published literature and structural context.
E32K (p.Glu32Lys) variant details
- p.Glu32Lys
- rs2084679567
- ClinGen CA394301415
- cosmic curated COSV10497
- ClinVar RCV001247049
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.46
- AlphaMissense 0.21
- MetaLR 0.37
- MetaSVM -0.35
- PolyPhen-2 0.99
- SIFT 0.03
- EVE 0.53
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)