E51* (p.Glu51Ter) variant of KCNJ11 (Q14654)
E51* (p.Glu51Ter) in KCNJ11 (Q14654) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data and structural context.
E51* (p.Glu51Ter) variant details
- p.Glu51Ter
- rs2496412015
- ClinGen CA379776316
- ClinVar RCV003557566
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.861
- CADD 37.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available