E85Q (p.Glu85Gln) variant of NFKBIA (NF-kappa-B inhibitor alpha)
E85Q (p.Glu85Gln) in NFKBIA (NF-kappa-B inhibitor alpha) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
E85Q (p.Glu85Gln) variant details
- p.Glu85Gln
- TOPMed rs1448839061
- gnomAD rs1448839061
- Missense
- Variant Prioritization Score for Impact Estimate 0.638
- REVEL 0.48
- MetaLR 0.76
- MetaSVM 0.57
- CADD 28.50
- PolyPhen-2 0.99
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available