E322K (p.Glu322Lys) variant of KCNJ11 (Q14654)
E322K (p.Glu322Lys) in KCNJ11 (Q14654) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Diabetes mellitus; Permanent neonatal diabetes mellitus; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes published literature and structural context.
E322K (p.Glu322Lys) variant details
- p.Glu322Lys
- rs193929355
- ClinGen CA172352
- ClinVar RCV000020360
- ClinVar RCV000146122
- Pathogenic
- Diabetes mellitus; Permanent neonatal diabetes mellitus; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.781
- AlphaMissense 0.52
- MetaLR 0.84
- MetaSVM 0.81
- SIFT 0.02
- MutPred 0.84
- ClinVar: Pathogenic (Diabetes mellitus; Permanent neonatal diabetes mellitus; not pro)
- EBI: Pathogenic (in PNDM2)
- UniProt: Pathogenic (in PNDM2)
- Structural context available
- Cited in: Kir6.2 mutations are a common cause of permanent neonatal diabetes in a large cohort of French patients. (PMID 15448107)
- Cited in: Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal… (PMID 15115830)