E282K (p.Glu282Lys) variant of KCNJ11 (Q14654)
E282K (p.Glu282Lys) in KCNJ11 (Q14654) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Diabetes mellitus, permanent neonatal 2; Maturity-onset diabetes of the young ty. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes population frequency data, published literature, and structural context.
E282K (p.Glu282Lys) variant details
- p.Glu282Lys
- rs267607196
- ClinGen CA254526
- NCI-TCGA Cosmic COSV6059
- cosmic curated COSV60594
- Pathogenic/Likely pathogenic
- Diabetes mellitus, permanent neonatal 2; Maturity-onset diabetes of the young ty
- Missense
- Variant Prioritization Score for Impact Estimate 0.908
- REVEL 0.96
- AlphaMissense 1.00
- MetaLR 0.96
- MetaSVM 1.10
- CADD 26.30
- PolyPhen-2 1.00
- ClinVar: Pathogenic/Likely pathogenic (Diabetes mellitus, permanent neonatal 2; Maturity-onset diabetes)
- EBI: Pathogenic (in HHF2)
- UniProt: Pathogenic (in HHF2)
- Most common in the HGDP:YAKUT population (allele frequency 0.02)
- Structural context available
- Cited in: Sar1-GTPase-dependent ER exit of KATP channels revealed by a mutation causing congenital hyperinsulinism. (PMID 19357197)
- Cited in: Permanent Neonatal Diabetes Mellitus. (PMID 20301620)