E56D (p.Glu56Asp) variant of IKBKB (O14920)
E56D (p.Glu56Asp) in IKBKB (O14920) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data and structural context.
E56D (p.Glu56Asp) variant details
- p.Glu56Asp
- TOPMed rs1186913596
- gnomAD rs1186913596
- Missense
- Variant Prioritization Score for Impact Estimate 0.0925
- REVEL 0.05
- CADD 9.63
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available