F82I (p.Phe82Ile) variant of JAK3 (Tyrosine-protein kinase JAK3)
F82I (p.Phe82Ile) in JAK3 (Tyrosine-protein kinase JAK3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
F82I (p.Phe82Ile) variant details
- p.Phe82Ile
- TOPMed rs1323877308
- gnomAD rs1323877308
- Missense
- Variant Prioritization Score for Impact Estimate 0.498
- REVEL 0.47
- CADD 25.20
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available