V96F (p.Val96Phe) variant of IL12B (Interleukin-12 subunit beta)
V96F (p.Val96Phe) 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 0.24 / 1. The record also includes population frequency data and structural context.
V96F (p.Val96Phe) variant details
- p.Val96Phe
- ESP rs368468349
- ExAC rs368468349
- TOPMed rs368468349
- gnomAD rs368468349
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.24
- REVEL 0.05
- MetaLR 0.07
- MetaSVM -1.01
- CADD 9.05
- PolyPhen-2 0.38
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available