C125* (p.Cys125Ter) variant of IL2RA (P01589)
C125* (p.Cys125Ter) in IL2RA (P01589) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data and structural context.
C125* (p.Cys125Ter) variant details
- p.Cys125Ter
- Ensembl rs2132854016
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.705
- CADD 36.00
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available