E3E (p.Glu3Glu) variant of KCNQ4 (P56696)
E3E (p.Glu3Glu) in KCNQ4 (P56696) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
E3E (p.Glu3Glu) variant details
- p.Glu3Glu
- gnomAD 1-40784102-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.278
- CADD 11.90
- Most common in the Middle Eastern population (allele frequency 0.0015)
- Structural context available
- Literature evidence available