E39* (p.Glu39Ter) variant of KCNQ3 (O43525)
E39* (p.Glu39Ter) in KCNQ3 (O43525) 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 0.53 / 1. The record also includes population frequency data and structural context.
E39* (p.Glu39Ter) variant details
- p.Glu39Ter
- rs1448580874
- ClinGen CA372292866
- ClinVar RCV003586869
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.533
- CADD 35.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9.5e-07)
- Structural context available