G10E (p.Gly10Glu) variant of KCNQ3 (O43525)
G10E (p.Gly10Glu) in KCNQ3 (O43525) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
G10E (p.Gly10Glu) variant details
- p.Gly10Glu
- cosmic curated COSV10653
- TOPMed rs950610665
- gnomAD rs950610665
- Missense
- Variant Prioritization Score for Impact Estimate 0.545
- REVEL 0.53
- CADD 23.60
- PolyPhen-2 0.01
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available