Q114* (p.Gln114Ter) variant of IL2RA (P01589)
Q114* (p.Gln114Ter) in IL2RA (P01589) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
Q114* (p.Gln114Ter) variant details
- p.Gln114Ter
- gnomAD rs1262248139
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.476
- CADD 35.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available