R55Q (p.Arg55Gln) variant of IKBKB (O14920)
R55Q (p.Arg55Gln) in IKBKB (O14920) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Severe combined immunodeficiency due to IKK2 deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
R55Q (p.Arg55Gln) variant details
- p.Arg55Gln
- cosmic curated COSV10441
- TOPMed rs1000600256
- Uncertain significance
- Severe combined immunodeficiency due to IKK2 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.409
- REVEL 0.17
- CADD 23.90
- PolyPhen-2 0.07
- SIFT 0.02
- ClinVar: Uncertain significance (Severe combined immunodeficiency due to IKK2 deficiency)
- UniProt: Uncertain significance
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available