L26Q (p.Leu26Gln) variant of NFKBIA (NF-kappa-B inhibitor alpha)
L26Q (p.Leu26Gln) 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 0.38 / 1. The record also includes population frequency data and structural context.
L26Q (p.Leu26Gln) variant details
- p.Leu26Gln
- TOPMed rs1222307946
- gnomAD rs1222307946
- Uncertain significance
- Ectodermal dysplasia and immunodeficiency 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.385
- REVEL 0.34
- MetaLR 0.18
- MetaSVM -0.92
- CADD 22.60
- PolyPhen-2 0.01
- SIFT 0.37
- ClinVar: Uncertain significance (Ectodermal dysplasia and immunodeficiency 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available