E44D (p.Glu44Asp) variant of KCNE2 (Q9Y6J6)
E44D (p.Glu44Asp) in KCNE2 (Q9Y6J6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
E44D (p.Glu44Asp) variant details
- p.Glu44Asp
- gnomAD 21-34370610-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.565
- REVEL 0.45
- ESM-1b 0.00
- AlphaMissense 0.59
- MetaLR 0.79
- MetaSVM 0.68
- CADD 25.10
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available