G16E (p.Gly16Glu) variant of KCNQ2 (O43526)
G16E (p.Gly16Glu) in KCNQ2 (O43526) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
G16E (p.Gly16Glu) variant details
- p.Gly16Glu
- TOPMed rs1210556670
- Missense
- Variant Prioritization Score for Impact Estimate 0.363
- REVEL 0.27
- CADD 18.70
- PolyPhen-2 0.01
- SIFT 0.41
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available