Q2* (p.Gln2Ter) variant of JAK1 (Tyrosine-protein kinase JAK1)
Q2* (p.Gln2Ter) in JAK1 (Tyrosine-protein kinase JAK1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data and structural context.
Q2* (p.Gln2Ter) variant details
- p.Gln2Ter
- Ensembl rs2101304076
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.896
- CADD 50.00
- Population evidence available
- Structural context available