R53P (p.Arg53Pro) variant of NFKBIA (NF-kappa-B inhibitor alpha)
R53P (p.Arg53Pro) in NFKBIA (NF-kappa-B inhibitor alpha) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes variant effect predictions and structural context.
R53P (p.Arg53Pro) variant details
- p.Arg53Pro
- ExAC rs761810172
- gnomAD rs761810172
- Uncertain significance
- Missense
- MetaLR 0.31
- MetaSVM -0.33
- SIFT 0.03
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available