Q18* (p.Gln18Ter) variant of KCNE1 (P15382)
Q18* (p.Gln18Ter) in KCNE1 (P15382) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
Q18* (p.Gln18Ter) variant details
- p.Gln18Ter
- gnomAD 21-34449583-G-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.605
- CADD 35.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-06)
- Structural context available
- Trafficking scores for KCNE1 in the presence of KCNQ1: score 1.44
- Literature evidence available