S21* (p.Ser21Ter) variant of IL1RN (P18510)
S21* (p.Ser21Ter) in IL1RN (P18510) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
S21* (p.Ser21Ter) variant details
- p.Ser21Ter
- rs112879651
- ClinGen CA53692982
- cosmic curated COSV52081
- ClinVar RCV000512716
- Likely pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.625
- CADD 19.00
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available