Q9R (p.Gln9Arg) variant of NFKBIA (NF-kappa-B inhibitor alpha)
Q9R (p.Gln9Arg) in NFKBIA (NF-kappa-B inhibitor alpha) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
Q9R (p.Gln9Arg) variant details
- p.Gln9Arg
- TOPMed rs1383874564
- gnomAD rs1383874564
- Missense
- Variant Prioritization Score for Impact Estimate 0.243
- REVEL 0.24
- MetaLR 0.27
- MetaSVM -0.86
- CADD 9.72
- PolyPhen-2 0.07
- SIFT 0.65
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available