V47I (p.Val47Ile) variant of IL12B (Interleukin-12 subunit beta)
V47I (p.Val47Ile) in IL12B (Interleukin-12 subunit beta) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
V47I (p.Val47Ile) variant details
- p.Val47Ile
- 1000Genomes rs563294089
- ExAC rs563294089
- TOPMed rs563294089
- gnomAD rs563294089
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.185
- REVEL 0.08
- MetaLR 0.07
- MetaSVM -1.04
- CADD 15.60
- PolyPhen-2 0.01
- SIFT 0.11
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available