G42D (p.Gly42Asp) variant of IL12RB1 (P42701)
G42D (p.Gly42Asp) in IL12RB1 (P42701) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data.
G42D (p.Gly42Asp) variant details
- p.Gly42Asp
- ExAC rs745661790
- gnomAD rs745661790
- Missense
- Variant Prioritization Score for Impact Estimate 0.336
- CADD 21.40
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Middle Eastern population (allele frequency 0.0007)