G58E (p.Gly58Glu) variant of KCNE2 (Q9Y6J6)
G58E (p.Gly58Glu) in KCNE2 (Q9Y6J6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
G58E (p.Gly58Glu) variant details
- p.Gly58Glu
- gnomAD 21-34370651-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.868
- REVEL 0.86
- ESM-1b 1.00
- AlphaMissense 0.99
- MetaLR 0.92
- MetaSVM 1.03
- CADD 27.60
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available