Q45* (p.Gln45Ter) variant of IL1RN (P18510)
Q45* (p.Gln45Ter) in IL1RN (P18510) 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 0.88 / 1. The record also includes population frequency data and structural context.
Q45* (p.Gln45Ter) variant details
- p.Gln45Ter
- rs1019766125
- ClinGen CA53694871
- NCI-TCGA Cosmic COSV5208
- cosmic curated COSV52080
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.879
- CADD 44.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available