Q69* (p.Gln69Ter) variant of NFKBIA (NF-kappa-B inhibitor alpha)
Q69* (p.Gln69Ter) in NFKBIA (NF-kappa-B inhibitor alpha) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data and structural context.
Q69* (p.Gln69Ter) variant details
- p.Gln69Ter
- cosmic curated COSV53752
- 1000Genomes rs2138834009
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.754
- CADD 40.00
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available