E6Q (p.Glu6Gln) variant of NFKBIA (NF-kappa-B inhibitor alpha)
E6Q (p.Glu6Gln) 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 0.36 / 1. The record also includes population frequency data and structural context.
E6Q (p.Glu6Gln) variant details
- p.Glu6Gln
- TOPMed rs923187160
- gnomAD rs923187160
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.36
- REVEL 0.14
- MetaLR 0.23
- MetaSVM -0.81
- CADD 19.60
- PolyPhen-2 0.00
- SIFT 0.42
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 8.5e-05)
- Structural context available