E11* (p.Glu11Ter) variant of KCNJ11 (Q14654)
E11* (p.Glu11Ter) 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 0.58 / 1. The record also includes structural context.
E11* (p.Glu11Ter) variant details
- p.Glu11Ter
- rs542961309
- ClinGen CA379777663
- ClinVar RCV003573151
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.584
- AlphaMissense 0.29
- MetaLR 0.59
- MetaSVM 0.30
- SIFT 0.02
- MutPred 0.48
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available