Y74* (p.Tyr74Ter) variant of KCNQ2 (O43526)
Y74* (p.Tyr74Ter) in KCNQ2 (O43526) 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 0.55 / 1. The record also includes population frequency data and structural context.
Y74* (p.Tyr74Ter) variant details
- p.Tyr74Ter
- rs796052613
- ClinGen CA315342
- ClinVar RCV000187847
- gnomAD rs796052613
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.545
- CADD 37.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available