E122E (p.Glu122Glu) variant of IL12B (Interleukin-12 subunit beta)
E122E (p.Glu122Glu) in IL12B (Interleukin-12 subunit beta) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
E122E (p.Glu122Glu) variant details
- p.Glu122Glu
- gnomAD 5-159322510-T-C
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.157
- CADD 10.80
- Population evidence available
- Structural context available
- Literature evidence available