D10G (p.Asp10Gly) variant of NFKB2 (Q00653)
D10G (p.Asp10Gly) 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 0.54 / 1. The record also includes population frequency data and structural context.
D10G (p.Asp10Gly) variant details
- p.Asp10Gly
- rs1167402841
- ClinGen CA377895740
- ClinVar RCV003745752
- TOPMed rs1167402841
- Uncertain significance
- Immunodeficiency, common variable, 10
- Missense
- Variant Prioritization Score for Impact Estimate 0.536
- CADD 33.00
- PolyPhen-2 0.70
- SIFT 0.01
- ClinVar: Uncertain significance (Immunodeficiency, common variable, 10)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available