K59* (p.Lys59Ter) variant of JAK3 (Tyrosine-protein kinase JAK3)
K59* (p.Lys59Ter) in JAK3 (Tyrosine-protein kinase JAK3) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
K59* (p.Lys59Ter) variant details
- p.Lys59Ter
- rs2514582034
- ClinGen CA404774961
- ClinVar RCV002797190
- Likely pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.574
- CADD 40.00
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available