E35K (p.Glu35Lys) variant of KCNE2 (Q9Y6J6)
E35K (p.Glu35Lys) in KCNE2 (Q9Y6J6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
E35K (p.Glu35Lys) variant details
- p.Glu35Lys
- gnomAD 21-34370581-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.345
- REVEL 0.19
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.49
- MetaSVM -0.44
- CADD 18.20
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available