Q52* (p.Gln52Ter) variant of IL7R (P16871)
Q52* (p.Gln52Ter) in IL7R (P16871) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
Q52* (p.Gln52Ter) variant details
- p.Gln52Ter
- TOPMed rs1759790215
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.44
- CADD 35.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available