P47R (p.Pro47Arg) variant of IL12RB1 (P42701)
P47R (p.Pro47Arg) in IL12RB1 (P42701) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data.
P47R (p.Pro47Arg) variant details
- p.Pro47Arg
- ExAC rs756640017
- gnomAD rs756640017
- Missense
- Variant Prioritization Score for Impact Estimate 0.744
- CADD 24.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)