E14E (p.Glu14Glu) variant of KCNJ5 (P48544)
E14E (p.Glu14Glu) in KCNJ5 (P48544) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
E14E (p.Glu14Glu) variant details
- p.Glu14Glu
- gnomAD 11-128911315-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.314
- CADD 9.50
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available