E28K (p.Glu28Lys) variant of IL12RB1 (P42701)
E28K (p.Glu28Lys) in IL12RB1 (P42701) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data.
E28K (p.Glu28Lys) variant details
- p.Glu28Lys
- ExAC rs779895710
- gnomAD rs779895710
- Missense
- Variant Prioritization Score for Impact Estimate 0.125
- CADD 8.81
- PolyPhen-2 0.03
- SIFT 0.27
- Most common in the African/African-American population (allele frequency 4.8e-05)