E117G (p.Glu117Gly) variant of KCNQ2 (O43526)
E117G (p.Glu117Gly) in KCNQ2 (O43526) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
E117G (p.Glu117Gly) variant details
- p.Glu117Gly
- NCI-TCGA TCGA novel
- gnomAD rs2081439398
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.722
- REVEL 0.77
- CADD 32.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the East Asian population (allele frequency 2.8e-05)
- Structural context available