D49E (p.Asp49Glu) variant of IL12RB1 (P42701)
D49E (p.Asp49Glu) in IL12RB1 (P42701) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data.
D49E (p.Asp49Glu) variant details
- p.Asp49Glu
- TOPMed rs2035966738
- Missense
- Variant Prioritization Score for Impact Estimate 0.276
- CADD 17.50
- PolyPhen-2 0.20
- SIFT 0.04
- Most common in the 1KG:MXL population (allele frequency 0.0081)