E36A (p.Glu36Ala) variant of IKBKB (O14920)
E36A (p.Glu36Ala) in IKBKB (O14920) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
E36A (p.Glu36Ala) variant details
- p.Glu36Ala
- gnomAD 8-42288635-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.222
- REVEL 0.12
- MetaLR 0.13
- MetaSVM -1.06
- CADD 22.70
- PolyPhen-2 0.01
- SIFT 0.05
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Literature evidence available