E43E (p.Glu43Glu) variant of KCNE1 (P15382)
E43E (p.Glu43Glu) in KCNE1 (P15382) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
E43E (p.Glu43Glu) variant details
- p.Glu43Glu
- rs560251161
- gnomAD 21-34449506-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.12
- CADD 5.52
- Population evidence available
- Structural context available
- Trafficking scores for KCNE1 in the presence of KCNQ1: score 1.01
- Literature evidence available