Y11* (p.Tyr11Ter) variant of KCNQ2 (O43526)
Y11* (p.Tyr11Ter) 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 0.62 / 1. The record also includes population frequency data and structural context.
Y11* (p.Tyr11Ter) variant details
- p.Tyr11Ter
- rs2082240394
- ClinGen CA409636202
- ClinVar RCV005866853
- ClinVar RCV006465755
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.617
- CADD 36.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available