P69S (p.Pro69Ser) variant of IL12RB1 (P42701)
P69S (p.Pro69Ser) in IL12RB1 (P42701) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data.
P69S (p.Pro69Ser) variant details
- p.Pro69Ser
- ESP rs373626971
- ExAC rs373626971
- TOPMed rs373626971
- gnomAD rs373626971
- Missense
- Variant Prioritization Score for Impact Estimate 0.173
- CADD 13.50
- PolyPhen-2 0.76
- SIFT 0.19
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)