R74Q (p.Arg74Gln) variant of NFKB2 (Q00653)
R74Q (p.Arg74Gln) 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 0.73 / 1. The record also includes population frequency data and structural context.
R74Q (p.Arg74Gln) variant details
- p.Arg74Gln
- rs774802098
- ClinGen CA212213837
- NCI-TCGA Cosmic COSV5187
- cosmic curated COSV51871
- Uncertain significance
- Immunodeficiency, common variable, 10
- Missense
- Variant Prioritization Score for Impact Estimate 0.725
- CADD 23.50
- PolyPhen-2 0.01
- SIFT 0.06
- ClinVar: Uncertain significance (Immunodeficiency, common variable, 10)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available