E56E (p.Glu56Glu) variant of IKBKB (O14920)
E56E (p.Glu56Glu) in IKBKB (O14920) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
E56E (p.Glu56Glu) variant details
- p.Glu56Glu
- rs1186913596
- gnomAD 8-42288696-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.124
- CADD 6.18
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available
- Literature evidence available