A17V (p.Ala17Val) variant of IL12B (Interleukin-12 subunit beta)
A17V (p.Ala17Val) in IL12B (Interleukin-12 subunit beta) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. 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.
A17V (p.Ala17Val) variant details
- p.Ala17Val
- rs1033790517
- NCI-TCGA Cosmic COSV9918
- TOPMed rs1033790517
- gnomAD rs1033790517
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.166
- REVEL 0.03
- MetaLR 0.03
- MetaSVM -0.97
- CADD 20.50
- PolyPhen-2 0.01
- SIFT 0.14
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 5.8e-05)
- Structural context available