R54* (p.Arg54Ter) variant of NFKB2 (Q00653)
R54* (p.Arg54Ter) in NFKB2 (Q00653) is a protein-truncating change. Clinical records from UniProt describe it as variant assessed as somatic; high impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data and structural context.
R54* (p.Arg54Ter) variant details
- p.Arg54Ter
- rs1337105771
- cosmic curated COSV10720
- gnomAD rs1337105771
- Variant assessed as somatic; high impact.
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.765
- CADD 38.00
- UniProt: Variant assessed as somatic; high impact.
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available