L19F (p.Leu19Phe) variant of JAK3 (Tyrosine-protein kinase JAK3)
L19F (p.Leu19Phe) in JAK3 (Tyrosine-protein kinase JAK3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
L19F (p.Leu19Phe) variant details
- p.Leu19Phe
- ExAC rs781178874
- gnomAD rs781178874
- Missense
- Variant Prioritization Score for Impact Estimate 0.161
- REVEL 0.24
- CADD 0.01
- PolyPhen-2 0.05
- SIFT 0.17
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available