V7A (p.Val7Ala) variant of IL12B (Interleukin-12 subunit beta)
V7A (p.Val7Ala) in IL12B (Interleukin-12 subunit beta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
V7A (p.Val7Ala) variant details
- p.Val7Ala
- TOPMed rs1754197608
- Missense
- Variant Prioritization Score for Impact Estimate 0.174
- REVEL 0.05
- AlphaMissense 0.09
- MetaLR 0.05
- MetaSVM -1.02
- CADD 18.80
- PolyPhen-2 0.10
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available