Q13* (p.Gln13Ter) variant of JAK3 (Tyrosine-protein kinase JAK3)
Q13* (p.Gln13Ter) in JAK3 (Tyrosine-protein kinase JAK3) 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 0.61 / 1. The record also includes population frequency data and structural context.
Q13* (p.Gln13Ter) variant details
- p.Gln13Ter
- rs201771231
- NCI-TCGA Cosmic COSV7168
- cosmic curated COSV71686
- gnomAD rs201771231
- Variant assessed as somatic; high impact.
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.608
- CADD 35.00
- UniProt: Variant assessed as somatic; high impact.
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available