F128S (p.Phe128Ser) variant of IL12B (Interleukin-12 subunit beta)
F128S (p.Phe128Ser) 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 0.35 / 1. The record also includes population frequency data and structural context.
F128S (p.Phe128Ser) variant details
- p.Phe128Ser
- 1000Genomes rs183576218
- ExAC rs183576218
- gnomAD rs183576218
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.348
- REVEL 0.28
- MetaLR 0.10
- MetaSVM -1.05
- CADD 27.00
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available