I19I (p.Ile19Ile) variant of JAK2 (Tyrosine-protein kinase JAK2)
I19I (p.Ile19Ile) in JAK2 (Tyrosine-protein kinase JAK2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
I19I (p.Ile19Ile) variant details
- p.Ile19Ile
- rs1302672595
- gnomAD 9-5022044-A-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0871
- CADD 0.91
- Most common in the HGDP:PALESTINIAN population (allele frequency 0.013)
- Structural context available
- Literature evidence available