C90S (p.Cys90Ser) variant of IL12B (Interleukin-12 subunit beta)
C90S (p.Cys90Ser) in IL12B (Interleukin-12 subunit beta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
C90S (p.Cys90Ser) variant details
- p.Cys90Ser
- TOPMed rs1307665997
- gnomAD rs1307665997
- Missense
- Variant Prioritization Score for Impact Estimate 0.563
- REVEL 0.57
- MetaLR 0.43
- MetaSVM -0.05
- CADD 24.10
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available