G72C (p.Gly72Cys) variant of IL12B (Interleukin-12 subunit beta)
G72C (p.Gly72Cys) in IL12B (Interleukin-12 subunit beta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
G72C (p.Gly72Cys) variant details
- p.Gly72Cys
- gnomAD rs1754127107
- Missense
- Variant Prioritization Score for Impact Estimate 0.611
- REVEL 0.59
- MetaLR 0.19
- MetaSVM -0.69
- CADD 26.20
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available