E19K (p.Glu19Lys) variant of KCNE1 (P15382)
E19K (p.Glu19Lys) in KCNE1 (P15382) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, experimental measurements, and structural context.
E19K (p.Glu19Lys) variant details
- p.Glu19Lys
- 1000Genomes rs183412632
- ExAC rs183412632
- gnomAD rs183412632
- Missense
- Variant Prioritization Score for Impact Estimate 0.344
- REVEL 0.33
- ESM-1b 0.00
- AlphaMissense 0.11
- CADD 14.70
- PolyPhen-2 0.01
- SIFT 0.46
- Most common in the East Asian population (allele frequency 3.3e-05)
- Structural context available
- Functional MAVE scores for KCNE1: score 1.35