E17K (p.Glu17Lys) variant of AKT2 (P31751)
E17K (p.Glu17Lys) in AKT2 (P31751) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Type 2 diabetes mellitus; Hypoinsulinemic hypoglycemia and body hemihypertrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes published literature and structural context.
E17K (p.Glu17Lys) variant details
- p.Glu17Lys
- rs387906659
- ClinGen CA128662
- NCI-TCGA Cosmic COSV6090
- cosmic curated COSV60907
- Pathogenic
- Type 2 diabetes mellitus; Hypoinsulinemic hypoglycemia and body hemihypertrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.403
- AlphaMissense 1.00
- MetaLR 0.23
- MetaSVM -0.70
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.62
- ClinVar: Pathogenic (Type 2 diabetes mellitus; Hypoinsulinemic hypoglycemia and body)
- EBI: Pathogenic (in HIHGHH)
- UniProt: Pathogenic (in HIHGHH)
- Structural context available
- Cited in: An activating mutation of AKT2 and human hypoglycemia. (PMID 21979934)
- Cited in: WFS1 Spectrum Disorder. (PMID 20301750)