Q34E (p.Gln34Glu) variant of KCNE2 (Q9Y6J6)
Q34E (p.Gln34Glu) in KCNE2 (Q9Y6J6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
Q34E (p.Gln34Glu) variant details
- p.Gln34Glu
- gnomAD 21-34370578-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.211
- REVEL 0.16
- ESM-1b 0.00
- AlphaMissense 0.05
- MetaLR 0.53
- MetaSVM -0.69
- CADD 4.94
- Population evidence available
- Structural context available
- Literature evidence available