E19Q (p.Glu19Gln) variant of KCNE1 (P15382)
E19Q (p.Glu19Gln) in KCNE1 (P15382) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
E19Q (p.Glu19Gln) variant details
- p.Glu19Gln
- gnomAD 21-34449580-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.312
- REVEL 0.27
- ESM-1b 0.00
- AlphaMissense 0.11
- CADD 13.70
- PolyPhen-2 0.12
- SIFT 0.29
- Most common in the South Asian population (allele frequency 1.6e-05)
- Structural context available
- Functional MAVE scores for KCNE1: score 1.35
- Literature evidence available