D16E (p.Asp16Glu) variant of NFKB2 (Q00653)
D16E (p.Asp16Glu) 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 0.22 / 1. The record also includes population frequency data and structural context.
D16E (p.Asp16Glu) variant details
- p.Asp16Glu
- rs774734354
- ClinGen CA377895785
- ClinVar RCV003090376
- ExAC rs774734354
- Uncertain significance
- Immunodeficiency, common variable, 10
- Missense
- Variant Prioritization Score for Impact Estimate 0.218
- CADD 19.40
- ClinVar: Uncertain significance (Immunodeficiency, common variable, 10)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available