E43Q (p.Glu43Gln) variant of NFKBIA (NF-kappa-B inhibitor alpha)
E43Q (p.Glu43Gln) in NFKBIA (NF-kappa-B inhibitor alpha) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
E43Q (p.Glu43Gln) variant details
- p.Glu43Gln
- cosmic curated COSV53752
- TOPMed rs999467784
- gnomAD rs999467784
- Missense
- Variant Prioritization Score for Impact Estimate 0.312
- REVEL 0.09
- MetaLR 0.26
- MetaSVM -0.76
- CADD 21.40
- PolyPhen-2 0.27
- SIFT 0.98
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available