Q78* (p.Gln78Ter) variant of KCNQ2 (O43526)
Q78* (p.Gln78Ter) 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 0.81 / 1. The record also includes population frequency data and structural context.
Q78* (p.Gln78Ter) variant details
- p.Gln78Ter
- rs867848081
- ClinGen CA409635114
- ClinVar RCV001201162
- ClinVar RCV006465749
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.807
- CADD 38.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available