R53L (p.Arg53Leu) variant of NFKBIA (NF-kappa-B inhibitor alpha)
R53L (p.Arg53Leu) 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 0.44 / 1. The record also includes population frequency data and structural context.
R53L (p.Arg53Leu) variant details
- p.Arg53Leu
- ExAC rs761810172
- gnomAD rs761810172
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.438
- REVEL 0.31
- MetaLR 0.31
- MetaSVM -0.34
- CADD 25.70
- PolyPhen-2 0.99
- SIFT 0.04
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available