E2G (p.Glu2Gly) variant of IL12RB1 (P42701)
E2G (p.Glu2Gly) in IL12RB1 (P42701) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data and structural context.
E2G (p.Glu2Gly) variant details
- p.Glu2Gly
- Ensembl rs2146505929
- Missense
- Variant Prioritization Score for Impact Estimate 0.135
- CADD 7.63
- PolyPhen-2 0.00
- SIFT 1.00
- Population evidence available
- Structural context available