I11V (p.Ile11Val) variant of JAK3 (Tyrosine-protein kinase JAK3)
I11V (p.Ile11Val) in JAK3 (Tyrosine-protein kinase JAK3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
I11V (p.Ile11Val) variant details
- p.Ile11Val
- gnomAD rs1436664792
- Missense
- Variant Prioritization Score for Impact Estimate 0.295
- REVEL 0.26
- CADD 19.60
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available