A119P (p.Ala119Pro) variant of IL12RB1 (P42701)
A119P (p.Ala119Pro) 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.
A119P (p.Ala119Pro) variant details
- p.Ala119Pro
- ExAC rs761129935
- gnomAD rs761129935
- Missense
- Variant Prioritization Score for Impact Estimate 0.268
- CADD 10.40
- PolyPhen-2 0.28
- SIFT 0.13
- Most common in the East Asian population (allele frequency 0.00015)