E19E (p.Glu19Glu) variant of KCNJ11 (Q14654)
E19E (p.Glu19Glu) in KCNJ11 (Q14654) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
E19E (p.Glu19Glu) variant details
- p.Glu19Glu
- rs748791717
- gnomAD 11-17388035-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.288
- CADD 8.82
- Most common in the HGDP:BEDOUIN population (allele frequency 0.012)
- Structural context available
- Literature evidence available