Y20* (p.Tyr20Ter) variant of JAK2 (Tyrosine-protein kinase JAK2)
Y20* (p.Tyr20Ter) in JAK2 (Tyrosine-protein kinase JAK2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
Y20* (p.Tyr20Ter) variant details
- p.Tyr20Ter
- gnomAD 9-5022047-T-G
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.444
- CADD 34.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available