Q63R (p.Gln63Arg) variant of IKBKB (O14920)
Q63R (p.Gln63Arg) in IKBKB (O14920) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
Q63R (p.Gln63Arg) variant details
- p.Gln63Arg
- gnomAD 8-42288716-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.411
- REVEL 0.32
- MetaLR 0.17
- MetaSVM -0.92
- CADD 24.20
- PolyPhen-2 0.05
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available