E109G (p.Glu109Gly) variant of IL2RG (P31785)
E109G (p.Glu109Gly) in IL2RG (P31785) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
E109G (p.Glu109Gly) variant details
- p.Glu109Gly
- Ensembl rs2147750393
- Missense
- Variant Prioritization Score for Impact Estimate 0.374
- REVEL 0.24
- CADD 11.50
- PolyPhen-2 0.00
- SIFT 0.20
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available