I12V (p.Ile12Val) variant of NFKB2 (Q00653)
I12V (p.Ile12Val) in NFKB2 (Q00653) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of NFKB2-related disorder. The record also includes structural context.
I12V (p.Ile12Val) variant details
- p.Ile12Val
- rs2544575068
- ClinGen CA377895751
- ClinVar RCV003400364
- Uncertain significance
- NFKB2-related disorder
- Missense
- ClinVar: Uncertain significance (NFKB2-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available