E17K (p.Glu17Lys) variant of AKT3 (Q9Y243)
E17K (p.Glu17Lys) in AKT3 (Q9Y243) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR p. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes published literature.
E17K (p.Glu17Lys) variant details
- p.Glu17Lys
- rs397514606
- Ensembl rs397514606
- ClinGen CA130584
- NCI-TCGA Cosmic COSV5560
- Pathogenic
- Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR p
- Missense
- Variant Prioritization Score for Impact Estimate 0.405
- AlphaMissense 1.00
- MetaLR 0.22
- MetaSVM -0.64
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.65
- ClinVar: Pathogenic (Overgrowth syndrome and/or cerebral malformations due to abnorma)
- EBI: Pathogenic (in MPPH2 and melanoma)
- UniProt: Pathogenic (in MPPH2 and melanoma)
- Cited in: Somatic activation of AKT3 causes hemispheric developmental brain malformations. (PMID 22500628)
- Cited in: De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly. (PMID 22729223)