E34K (p.Glu34Lys) variant of IL2RG (P31785)
E34K (p.Glu34Lys) in IL2RG (P31785) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
E34K (p.Glu34Lys) variant details
- p.Glu34Lys
- rs2147748101
- gnomAD X-71109244-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.11
- CADD 4.13
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Literature evidence available