I67I (p.Ile67Ile) variant of JAK2 (Tyrosine-protein kinase JAK2)
I67I (p.Ile67Ile) in JAK2 (Tyrosine-protein kinase JAK2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
I67I (p.Ile67Ile) variant details
- p.Ile67Ile
- rs1822475350
- gnomAD 9-5022188-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.555
- CADD 8.17
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Literature evidence available