R57Q (p.Arg57Gln) variant of IKBKB (O14920)
R57Q (p.Arg57Gln) in IKBKB (O14920) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data and structural context.
R57Q (p.Arg57Gln) variant details
- p.Arg57Gln
- cosmic curated COSV60598
- ExAC rs774942847
- TOPMed rs774942847
- gnomAD rs774942847
- Missense
- Variant Prioritization Score for Impact Estimate 0.699
- REVEL 0.62
- CADD 30.00
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available