M1T (p.Met1Thr) variant of NFKBIA (NF-kappa-B inhibitor alpha)
M1T (p.Met1Thr) in NFKBIA (NF-kappa-B inhibitor alpha) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Ectodermal dysplasia and immunodeficiency 2. The record also includes variant effect predictions and structural context.
M1T (p.Met1Thr) variant details
- p.Met1Thr
- rs2138834467
- ClinGen CA389455534
- ClinVar RCV003630278
- Likely benign
- Ectodermal dysplasia and immunodeficiency 2
- Missense
- MetaLR 0.60
- MetaSVM 0.39
- PolyPhen-2 0.21
- SIFT 0.00
- MutPred 0.61
- ClinVar: Likely benign (Ectodermal dysplasia and immunodeficiency 2)
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available