D38A (p.Asp38Ala) variant of IL12RB1 (P42701)
D38A (p.Asp38Ala) in IL12RB1 (P42701) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data.
D38A (p.Asp38Ala) variant details
- p.Asp38Ala
- gnomAD rs1266683292
- Missense
- Variant Prioritization Score for Impact Estimate 0.285
- CADD 17.80
- PolyPhen-2 0.02
- SIFT 0.02
- Most common in the 1KG:MXL population (allele frequency 0.0081)