D28Y (p.Asp28Tyr) variant of NFKBIA (NF-kappa-B inhibitor alpha)
D28Y (p.Asp28Tyr) in NFKBIA (NF-kappa-B inhibitor alpha) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
D28Y (p.Asp28Tyr) variant details
- p.Asp28Tyr
- TOPMed rs2052769760
- Missense
- Variant Prioritization Score for Impact Estimate 0.605
- REVEL 0.53
- MetaLR 0.65
- MetaSVM 0.45
- CADD 27.50
- PolyPhen-2 0.96
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available