L70F (p.Leu70Phe) variant of NFKBIA (NF-kappa-B inhibitor alpha)
L70F (p.Leu70Phe) 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 0.28 / 1. The record also includes population frequency data and structural context.
L70F (p.Leu70Phe) variant details
- p.Leu70Phe
- ExAC rs755146648
- TOPMed rs755146648
- gnomAD rs755146648
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.284
- REVEL 0.07
- MetaLR 0.31
- MetaSVM -0.47
- CADD 24.60
- PolyPhen-2 0.17
- SIFT 0.06
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.7e-05)
- Structural context available