Q18Q (p.Gln18Gln) variant of KCNE1 (P15382)
Q18Q (p.Gln18Gln) in KCNE1 (P15382) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
Q18Q (p.Gln18Gln) variant details
- p.Gln18Gln
- rs149875299
- gnomAD 21-34449581-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.281
- CADD 9.48
- Most common in the REMAINING population (allele frequency 4.9e-05)
- Structural context available
- Trafficking scores for KCNE1 in the presence of KCNQ1: score 1.44
- Literature evidence available