K3* (p.Lys3Ter) variant of IL2RG (P31785)
K3* (p.Lys3Ter) in IL2RG (P31785) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
K3* (p.Lys3Ter) variant details
- p.Lys3Ter
- rs2147748094
- gnomAD X-71109232-T-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.226
- CADD 7.17
- Most common in the Non-Finnish European population (allele frequency 3.7e-05)
- Structural context available
- Literature evidence available