Y44* (p.Tyr44Ter) variant of JAK2 (Tyrosine-protein kinase JAK2)
Y44* (p.Tyr44Ter) in JAK2 (Tyrosine-protein kinase JAK2) is a protein-truncating change. Clinical records from UniProt describe it as variant assessed as somatic; high impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
Y44* (p.Tyr44Ter) variant details
- p.Tyr44Ter
- NCI-TCGA Cosmic COSV6761
- Variant assessed as somatic; high impact.
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.591
- CADD 35.00
- UniProt: Variant assessed as somatic; high impact.
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available