Y98* (p.Tyr98Ter) variant of KCNQ2 (O43526)
Y98* (p.Tyr98Ter) 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 0.72 / 1. The record also includes population frequency data and structural context.
Y98* (p.Tyr98Ter) variant details
- p.Tyr98Ter
- rs796052614
- ClinGen CA315345
- ClinVar RCV000187848
- TOPMed rs796052614
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.724
- CADD 41.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available