E127* (p.Glu127Ter) variant of IL2RA (P01589)
E127* (p.Glu127Ter) in IL2RA (P01589) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
E127* (p.Glu127Ter) variant details
- p.Glu127Ter
- gnomAD 10-6021682-C-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.786
- CADD 42.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available