D40G (p.Asp40Gly) variant of IL12B (Interleukin-12 subunit beta)
D40G (p.Asp40Gly) in IL12B (Interleukin-12 subunit beta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
D40G (p.Asp40Gly) variant details
- p.Asp40Gly
- TOPMed rs1438401438
- gnomAD rs1438401438
- Missense
- Variant Prioritization Score for Impact Estimate 0.303
- REVEL 0.16
- MetaLR 0.04
- MetaSVM -1.03
- CADD 13.50
- PolyPhen-2 0.01
- SIFT 0.14
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available