K34E (p.Lys34Glu) variant of TSC2 (Tuberin)
K34E (p.Lys34Glu) in TSC2 (Tuberin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Lymphangiomyomatosis; Isolated focal cortical dysplasia type II; Tuberous sclero. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes published literature and structural context.
K34E (p.Lys34Glu) variant details
- p.Lys34Glu
- rs2084680573
- ClinGen CA394301483
- ClinVar RCV001322979
- Ensembl rs2084680573
- Uncertain significance
- Lymphangiomyomatosis; Isolated focal cortical dysplasia type II; Tuberous sclero
- Missense
- Variant Prioritization Score for Impact Estimate 0.398
- AlphaMissense 0.33
- MetaLR 0.21
- MetaSVM -0.87
- PolyPhen-2 0.16
- SIFT 0.03
- EVE 0.48
- ClinVar: Uncertain significance (Lymphangiomyomatosis; Isolated focal cortical dysplasia type II;)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Tuberous Sclerosis Complex. (PMID 20301399)
- Cited in: Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions. (PMID 23519317)