A5D (p.Ala5Asp) variant of NFKBIA (NF-kappa-B inhibitor alpha)
A5D (p.Ala5Asp) 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 0.24 / 1. The record also includes population frequency data and structural context.
A5D (p.Ala5Asp) variant details
- p.Ala5Asp
- Ensembl rs2052771143
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.236
- REVEL 0.17
- MetaLR 0.24
- MetaSVM -0.84
- CADD 15.30
- PolyPhen-2 0.07
- SIFT 0.12
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available