E49D (p.Glu49Asp) variant of IKBKB (O14920)
E49D (p.Glu49Asp) in IKBKB (O14920) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.05 / 1. The record also includes population frequency data, published literature, and structural context.
E49D (p.Glu49Asp) variant details
- p.Glu49Asp
- rs1807931885
- gnomAD 8-42272241-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.0541
- CADD 1.65
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available
- Literature evidence available