L26R (p.Leu26Arg) variant of NFKBIA (NF-kappa-B inhibitor alpha)
L26R (p.Leu26Arg) 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 0.45 / 1. The record also includes population frequency data and structural context.
L26R (p.Leu26Arg) variant details
- p.Leu26Arg
- rs1222307946
- ClinGen CA389455366
- ClinVar RCV001968821
- TOPMed rs1222307946
- Uncertain significance
- Ectodermal dysplasia and immunodeficiency 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.447
- REVEL 0.45
- MetaLR 0.26
- MetaSVM -0.78
- CADD 23.80
- PolyPhen-2 0.08
- SIFT 0.25
- ClinVar: Uncertain significance (Ectodermal dysplasia and immunodeficiency 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available