M37I (p.Met37Ile) variant of NFKBIA (NF-kappa-B inhibitor alpha)
M37I (p.Met37Ile) 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 Ectodermal dysplasia and immunodeficiency 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
M37I (p.Met37Ile) variant details
- p.Met37Ile
- rs764415243
- ClinGen CA7155595
- ClinVar RCV001203467
- ExAC rs764415243
- Uncertain significance
- Ectodermal dysplasia and immunodeficiency 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.478
- REVEL 0.38
- MetaLR 0.53
- MetaSVM 0.03
- CADD 22.70
- PolyPhen-2 0.10
- SIFT 0.01
- ClinVar: Uncertain significance (Ectodermal dysplasia and immunodeficiency 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available