R52Q (p.Arg52Gln) variant of NFKB2 (Q00653)
R52Q (p.Arg52Gln) in NFKB2 (Q00653) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Immunodeficiency, common variable, 10. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data and structural context.
R52Q (p.Arg52Gln) variant details
- p.Arg52Gln
- rs2135429414
- ClinGen CA377896045
- NCI-TCGA Cosmic COSV5187
- cosmic curated COSV51871
- Uncertain significance
- Immunodeficiency, common variable, 10
- Missense
- Variant Prioritization Score for Impact Estimate 0.84
- CADD 33.00
- PolyPhen-2 0.96
- SIFT 0.00
- ClinVar: Uncertain significance (Immunodeficiency, common variable, 10)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available