E140K (p.Glu140Lys) variant of KCNJ11 (Q14654)
E140K (p.Glu140Lys) in KCNJ11 (Q14654) is a missense change. Clinical records from ClinVar 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 0.89 / 1. The record also includes population frequency data and structural context.
E140K (p.Glu140Lys) variant details
- p.Glu140Lys
- NCI-TCGA Cosmic COSV6059
- cosmic curated COSV60594
- Pathogenic/Likely pathogenic
- Diabetes mellitus; not provided; Neonatal diabetes mellitus
- Missense
- Variant Prioritization Score for Impact Estimate 0.886
- REVEL 0.95
- CADD 27.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Diabetes mellitus; not provided; Neonatal diabetes mellitus)
- UniProt: Likely pathogenic
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available