D119Y (p.Asp119Tyr) variant of IL12B (Interleukin-12 subunit beta)
D119Y (p.Asp119Tyr) in IL12B (Interleukin-12 subunit beta) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
D119Y (p.Asp119Tyr) variant details
- p.Asp119Tyr
- ExAC rs748791854
- TOPMed rs748791854
- gnomAD rs748791854
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.227
- REVEL 0.09
- MetaLR 0.09
- MetaSVM -1.05
- CADD 24.50
- PolyPhen-2 0.84
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available