L26V (p.Leu26Val) variant of NFKBIA (NF-kappa-B inhibitor alpha)
L26V (p.Leu26Val) in NFKBIA (NF-kappa-B inhibitor alpha) is a missense change. Clinical records from ClinVar 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 0.26 / 1. The record also includes population frequency data and structural context.
L26V (p.Leu26Val) variant details
- p.Leu26Val
- ExAC rs200033269
- TOPMed rs200033269
- gnomAD rs200033269
- Uncertain significance
- Ectodermal dysplasia and immunodeficiency 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.262
- REVEL 0.17
- MetaLR 0.22
- MetaSVM -0.94
- CADD 17.60
- PolyPhen-2 0.00
- SIFT 0.43
- ClinVar: Uncertain significance (Ectodermal dysplasia and immunodeficiency 2)
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 3.4e-05)
- Structural context available