R29L (p.Arg29Leu) variant of NFKBIA (NF-kappa-B inhibitor alpha)
R29L (p.Arg29Leu) 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 0.80 / 1. The record also includes population frequency data and structural context.
R29L (p.Arg29Leu) variant details
- p.Arg29Leu
- ExAC rs754412949
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.803
- REVEL 0.78
- MetaLR 0.83
- MetaSVM 0.87
- CADD 29.10
- PolyPhen-2 0.99
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available