K22Q (p.Lys22Gln) variant of NFKBIA (NF-kappa-B inhibitor alpha)
K22Q (p.Lys22Gln) in NFKBIA (NF-kappa-B inhibitor alpha) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
K22Q (p.Lys22Gln) variant details
- p.Lys22Gln
- Ensembl rs1594427952
- Missense
- Variant Prioritization Score for Impact Estimate 0.503
- REVEL 0.41
- MetaLR 0.62
- MetaSVM 0.05
- CADD 24.50
- PolyPhen-2 0.99
- SIFT 0.39
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available