L54F (p.Leu54Phe) variant of NFKBIA (NF-kappa-B inhibitor alpha)
L54F (p.Leu54Phe) in NFKBIA (NF-kappa-B inhibitor alpha) is a missense change. 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.
L54F (p.Leu54Phe) variant details
- p.Leu54Phe
- TOPMed rs1211128367
- gnomAD rs1211128367
- Missense
- Variant Prioritization Score for Impact Estimate 0.245
- REVEL 0.03
- MetaLR 0.13
- MetaSVM -0.94
- CADD 23.10
- SIFT 0.07
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available