W91* (p.Trp91Ter) variant of KCNQ2 (O43526)
W91* (p.Trp91Ter) 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 0.70 / 1. The record also includes population frequency data and structural context.
W91* (p.Trp91Ter) variant details
- p.Trp91Ter
- rs2516742945
- ClinGen CA409635026
- ClinVar RCV006559691
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.705
- CADD 37.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available