K44E (p.Lys44Glu) variant of IKBKB (O14920)
K44E (p.Lys44Glu) in IKBKB (O14920) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
K44E (p.Lys44Glu) variant details
- p.Lys44Glu
- gnomAD 8-42288658-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.84
- REVEL 0.97
- MetaLR 0.81
- MetaSVM 0.92
- CADD 28.20
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available
- Literature evidence available