E123G (p.Glu123Gly) variant of KCNQ2 (O43526)
E123G (p.Glu123Gly) in KCNQ2 (O43526) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
E123G (p.Glu123Gly) variant details
- p.Glu123Gly
- gnomAD rs1318248247
- Missense
- Variant Prioritization Score for Impact Estimate 0.642
- REVEL 0.65
- CADD 26.80
- PolyPhen-2 0.85
- SIFT 0.51
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available