Q26* (p.Gln26Ter) variant of IL7R (P16871)
Q26* (p.Gln26Ter) in IL7R (P16871) 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 0.75 / 1. The record also includes population frequency data and structural context.
Q26* (p.Gln26Ter) variant details
- p.Gln26Ter
- rs202007062
- ClinGen CA3231823
- cosmic curated COSV10514
- ClinVar RCV003516297
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.748
- CADD 36.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the REMAINING population (allele frequency 3.4e-05)
- Structural context available