R53Q (p.Arg53Gln) variant of IKBKB (O14920)
R53Q (p.Arg53Gln) in IKBKB (O14920) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
R53Q (p.Arg53Gln) variant details
- p.Arg53Gln
- cosmic curated COSV60599
- ExAC rs201288942
- TOPMed rs201288942
- gnomAD rs201288942
- Missense
- Variant Prioritization Score for Impact Estimate 0.27
- REVEL 0.07
- CADD 23.60
- PolyPhen-2 0.07
- SIFT 0.01
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available