V46M (p.Val46Met) variant of IL12B (Interleukin-12 subunit beta)
V46M (p.Val46Met) in IL12B (Interleukin-12 subunit beta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
V46M (p.Val46Met) variant details
- p.Val46Met
- ExAC rs756413190
- gnomAD rs756413190
- Missense
- Variant Prioritization Score for Impact Estimate 0.422
- REVEL 0.28
- MetaLR 0.23
- MetaSVM -0.63
- CADD 24.50
- PolyPhen-2 1.00
- SIFT 0.01
- Most common in the South Asian population (allele frequency 4.6e-05)
- Structural context available