R5* (p.Arg5Ter) variant of IL1RN (P18510)
R5* (p.Arg5Ter) in IL1RN (P18510) 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.
R5* (p.Arg5Ter) variant details
- p.Arg5Ter
- gnomAD 2-113127637-A-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.345
- CADD 12.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available
- Literature evidence available