R45* (p.Arg45Ter) variant of REL (Proto-oncogene c-Rel)
R45* (p.Arg45Ter) in REL (Proto-oncogene c-Rel) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
R45* (p.Arg45Ter) variant details
- p.Arg45Ter
- rs147654074
- gnomAD 2-60891805-C-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.571
- CADD 35.00
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Literature evidence available