R24Q (p.Arg24Gln) variant of NFKBIA (NF-kappa-B inhibitor alpha)
R24Q (p.Arg24Gln) in NFKBIA (NF-kappa-B inhibitor alpha) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
R24Q (p.Arg24Gln) variant details
- p.Arg24Gln
- TOPMed rs1193471162
- gnomAD rs1193471162
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.444
- REVEL 0.32
- MetaLR 0.40
- MetaSVM -0.46
- CADD 23.20
- PolyPhen-2 0.49
- SIFT 0.86
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available