D18Y (p.Asp18Tyr) variant of NFKBIA (NF-kappa-B inhibitor alpha)
D18Y (p.Asp18Tyr) 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 0.68 / 1. The record also includes population frequency data and structural context.
D18Y (p.Asp18Tyr) variant details
- p.Asp18Tyr
- ExAC rs746636446
- TOPMed rs746636446
- gnomAD rs746636446
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.681
- REVEL 0.60
- MetaLR 0.74
- MetaSVM 0.63
- CADD 25.00
- PolyPhen-2 0.81
- SIFT 0.09
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 0.00029)
- Structural context available