Q9* (p.Gln9Ter) variant of KCNE2 (Q9Y6J6)
Q9* (p.Gln9Ter) in KCNE2 (Q9Y6J6) is a protein-truncating change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
Q9* (p.Gln9Ter) variant details
- p.Gln9Ter
- rs16991652
- ClinGen CA410196117
- ClinVar RCV000621147
- 1000Genomes rs16991652
- Benign
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.518
- CADD 33.00
- EBI: Benign
- UniProt: Benign
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available