K103E (p.Lys103Glu) variant of KCNQ3 (O43525)
K103E (p.Lys103Glu) in KCNQ3 (O43525) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
K103E (p.Lys103Glu) variant details
- p.Lys103Glu
- ExAC rs776460879
- gnomAD rs776460879
- Missense
- Variant Prioritization Score for Impact Estimate 0.515
- REVEL 0.54
- CADD 23.00
- PolyPhen-2 0.04
- SIFT 0.15
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available