R50* (p.Arg50Ter) variant of IL1RAPL1 (Q9NZN1)
R50* (p.Arg50Ter) in IL1RAPL1 (Q9NZN1) 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 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
R50* (p.Arg50Ter) variant details
- p.Arg50Ter
- rs781674023
- ClinGen CA412632964
- NCI-TCGA Cosmic COSV5623
- ClinVar RCV001814756
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.476
- CADD 35.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: NR0B1-Related Adrenal Hypoplasia Congenita. (PMID 20301604)