E229K (p.Glu229Lys) variant of KCNJ11 (Q14654)
E229K (p.Glu229Lys) in KCNJ11 (Q14654) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic/likely risk allele in the context of Diabetes mellitus; Diabetes mellitus, permanent neonatal 2; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes published literature and structural context.
E229K (p.Glu229Lys) variant details
- p.Glu229Lys
- rs587783673
- ClinGen CA172342
- ClinVar RCV000146117
- ClinVar RCV002226687
- Pathogenic/Likely pathogenic/Likely risk allele
- Diabetes mellitus; Diabetes mellitus, permanent neonatal 2; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.925
- AlphaMissense 0.83
- MetaLR 0.95
- MetaSVM 1.10
- SIFT 0.00
- MutPred 0.94
- ClinVar: Pathogenic/Likely pathogenic/Likely risk allele (Diabetes mellitus; Diabetes mellitus, permanent neonatal 2; not)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Permanent Neonatal Diabetes Mellitus. (PMID 20301620)
- Cited in: WFS1 Spectrum Disorder. (PMID 20301750)