E227K (p.Glu227Lys) variant of KCNJ11 (Q14654)
E227K (p.Glu227Lys) 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; not provided; Neonatal diabetes mellitus. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
E227K (p.Glu227Lys) variant details
- p.Glu227Lys
- rs587783672
- ClinGen CA172340
- NCI-TCGA Cosmic COSV6059
- cosmic curated COSV60594
- Pathogenic/Likely pathogenic
- Diabetes mellitus; not provided; Neonatal diabetes mellitus
- Missense
- Variant Prioritization Score for Impact Estimate 0.899
- REVEL 0.97
- CADD 27.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Diabetes mellitus; not provided; Neonatal diabetes mellitus)
- EBI: Pathogenic (in MODY13)
- UniProt: Pathogenic (in MODY13)
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Cited in: Whole-exome sequencing and high throughput genotyping identified KCNJ11 as the thirteenth MODY gene. (PMID 22701567)
- Cited in: Maturity-Onset Diabetes of the Young Overview. (PMID 29792621)