E67K (p.Glu67Lys) variant of IL12RB1 (P42701)
E67K (p.Glu67Lys) in IL12RB1 (P42701) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data.
E67K (p.Glu67Lys) variant details
- p.Glu67Lys
- ExAC rs748341357
- TOPMed rs748341357
- gnomAD rs748341357
- Missense
- Variant Prioritization Score for Impact Estimate 0.266
- CADD 18.60
- PolyPhen-2 0.13
- SIFT 0.09
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)