E10* (p.Glu10Ter) variant of NFKBIA (NF-kappa-B inhibitor alpha)
E10* (p.Glu10Ter) in NFKBIA (NF-kappa-B inhibitor alpha) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and structural context.
E10* (p.Glu10Ter) variant details
- p.Glu10Ter
- rs2502188897
- ClinGen CA389455473
- ClinVar RCV003325300
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.666
- CADD 36.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available