E17K (p.Glu17Lys) variant of AKT1 (P31749)
E17K (p.Glu17Lys) in AKT1 (P31749) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Cowden syndrome 6; Proteus syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and published literature.
E17K (p.Glu17Lys) variant details
- p.Glu17Lys
- rs121434592
- cosmic curated COSV10466
- ClinGen CA123660
- NCI-TCGA Cosmic COSV6257
- Pathogenic
- not provided; Cowden syndrome 6; Proteus syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.401
- AlphaMissense 1.00
- MetaLR 0.22
- MetaSVM -0.64
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.61
- ClinVar: Pathogenic (not provided; Cowden syndrome 6; Proteus syndrome)
- EBI: Pathogenic (in PROTEUSS and breast cancer)
- UniProt: Pathogenic (in PROTEUSS and breast cancer)
- Population evidence available
- Cited in: A transforming mutation in the pleckstrin homology domain of AKT1 in cancer. (PMID 17611497)
- Cited in: Molecular mechanism of an oncogenic mutation that alters membrane targeting: Glu17Lys modifies the PIP lipid… (PMID 18954143)