A31G (p.Ala31Gly) variant of NFKB2 (Q00653)
A31G (p.Ala31Gly) in NFKB2 (Q00653) is a missense change. Clinical records from ClinVar 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 0.38 / 1. The record also includes population frequency data and structural context.
A31G (p.Ala31Gly) variant details
- p.Ala31Gly
- rs1485873314
- TOPMed rs1485873314
- gnomAD rs1485873314
- Uncertain significance
- Immunodeficiency, common variable, 10
- Missense
- Variant Prioritization Score for Impact Estimate 0.375
- CADD 15.90
- PolyPhen-2 0.01
- SIFT 0.35
- ClinVar: Uncertain significance (Immunodeficiency, common variable, 10)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available