E39D (p.Glu39Asp) variant of IKBKB (O14920)
E39D (p.Glu39Asp) in IKBKB (O14920) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
E39D (p.Glu39Asp) variant details
- p.Glu39Asp
- gnomAD 8-42288645-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.252
- REVEL 0.28
- MetaLR 0.19
- MetaSVM -0.91
- CADD 18.30
- PolyPhen-2 0.04
- SIFT 0.05
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- Literature evidence available