K13* (p.Lys13Ter) variant of KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1)
K13* (p.Lys13Ter) in KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1) 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 0.43 / 1. The record also includes population frequency data and structural context.
K13* (p.Lys13Ter) variant details
- p.Lys13Ter
- rs794728544
- ClinGen CA006918
- ClinVar RCV000182243
- Ensembl rs794728544
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.426
- CADD 35.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available