Y125* (p.Tyr125Ter) variant of IL1RAPL1 (Q9NZN1)
Y125* (p.Tyr125Ter) in IL1RAPL1 (Q9NZN1) 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 0.43 / 1. The record also includes population frequency data and structural context.
Y125* (p.Tyr125Ter) variant details
- p.Tyr125Ter
- rs1933918055
- ClinGen CA412632030
- ClinVar RCV002512402
- Likely pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.433
- CADD 35.00
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available