E45E (p.Glu45Glu) variant of KCNJ5 (P48544)
E45E (p.Glu45Glu) in KCNJ5 (P48544) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
E45E (p.Glu45Glu) variant details
- p.Glu45Glu
- gnomAD 11-128911408-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.101
- CADD 1.51
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Literature evidence available