I20L (p.Ile20Leu) variant of KCNE2 (Q9Y6J6)
I20L (p.Ile20Leu) 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.
I20L (p.Ile20Leu) variant details
- p.Ile20Leu
- gnomAD 21-34370536-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.213
- REVEL 0.27
- ESM-1b 0.00
- AlphaMissense 0.09
- MetaLR 0.41
- MetaSVM -0.79
- CADD 0.10
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available