P30A (p.Pro30Ala) variant of NFKB2 (Q00653)
P30A (p.Pro30Ala) 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 record also includes structural context.
P30A (p.Pro30Ala) variant details
- p.Pro30Ala
- ExAC rs754657770
- gnomAD rs754657770
- Uncertain significance
- Immunodeficiency, common variable, 10
- Missense
- ClinVar: Uncertain significance (Immunodeficiency, common variable, 10)
- UniProt: Uncertain significance
- Structural context available