Q9L (p.Gln9Leu) variant of NFKBIA (NF-kappa-B inhibitor alpha)
Q9L (p.Gln9Leu) in NFKBIA (NF-kappa-B inhibitor alpha) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
Q9L (p.Gln9Leu) variant details
- p.Gln9Leu
- TOPMed rs1383874564
- gnomAD rs1383874564
- Missense
- Variant Prioritization Score for Impact Estimate 0.301
- REVEL 0.34
- MetaLR 0.26
- MetaSVM -0.86
- CADD 13.40
- PolyPhen-2 0.05
- SIFT 0.48
- Most common in the Latino/Admixed American population (allele frequency 6.6e-05)
- Structural context available