R53R (p.Arg53Arg) variant of NFKB1 (P19838)
R53R (p.Arg53Arg) in NFKB1 (P19838) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
R53R (p.Arg53Arg) variant details
- p.Arg53Arg
- gnomAD 4-102537860-A-G
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.355
- CADD 19.40
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available