E49E (p.Glu49Glu) variant of IKBKB (O14920)
E49E (p.Glu49Glu) in IKBKB (O14920) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
E49E (p.Glu49Glu) variant details
- p.Glu49Glu
- rs1231379660
- gnomAD 8-42288675-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.21
- CADD 9.91
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Literature evidence available