L25Q (p.Leu25Gln) variant of NFKBIA (NF-kappa-B inhibitor alpha)
L25Q (p.Leu25Gln) in NFKBIA (NF-kappa-B inhibitor alpha) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
L25Q (p.Leu25Gln) variant details
- p.Leu25Gln
- ExAC rs758102701
- TOPMed rs758102701
- gnomAD rs758102701
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.278
- REVEL 0.18
- MetaLR 0.33
- MetaSVM -0.74
- CADD 21.50
- PolyPhen-2 0.01
- SIFT 0.41
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.4e-05)
- Structural context available