F45L (p.Phe45Leu) variant of JAK3 (Tyrosine-protein kinase JAK3)
F45L (p.Phe45Leu) in JAK3 (Tyrosine-protein kinase JAK3) 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 0.40 / 1. The record also includes population frequency data and structural context.
F45L (p.Phe45Leu) variant details
- p.Phe45Leu
- gnomAD rs1226305304
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.399
- REVEL 0.25
- CADD 22.60
- PolyPhen-2 0.37
- SIFT 0.65
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.6e-05)
- Structural context available