M1I (p.Met1Ile) variant of NFKBIA (NF-kappa-B inhibitor alpha)
M1I (p.Met1Ile) in NFKBIA (NF-kappa-B inhibitor alpha) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of NFKBIA-related disorder. The record also includes structural context.
M1I (p.Met1Ile) variant details
- p.Met1Ile
- rs2502189029
- ClinGen CA389455530
- ClinVar RCV003419111
- Uncertain significance
- NFKBIA-related disorder
- Missense
- ClinVar: Uncertain significance (NFKBIA-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available