E51G (p.Glu51Gly) variant of KCNQ3 (O43525)
E51G (p.Glu51Gly) in KCNQ3 (O43525) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
E51G (p.Glu51Gly) variant details
- p.Glu51Gly
- ExAC rs746592316
- gnomAD rs746592316
- Missense
- Variant Prioritization Score for Impact Estimate 0.469
- REVEL 0.38
- CADD 23.70
- PolyPhen-2 0.35
- SIFT 0.33
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available