E43D (p.Glu43Asp) variant of KCNE1 (P15382)
E43D (p.Glu43Asp) in KCNE1 (P15382) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, experimental measurements, and structural context.
E43D (p.Glu43Asp) variant details
- p.Glu43Asp
- cosmic curated COSV61606
- Missense
- Variant Prioritization Score for Impact Estimate 0.378
- REVEL 0.60
- ESM-1b 0.00
- AlphaMissense 0.60
- CADD 8.10
- PolyPhen-2 0.36
- SIFT 0.05
- Population evidence available
- Structural context available
- Trafficking scores for KCNE1 in the presence of KCNQ1: score 1.01