Q56* (p.Gln56Ter) variant of JAK3 (Tyrosine-protein kinase JAK3)
Q56* (p.Gln56Ter) in JAK3 (Tyrosine-protein kinase JAK3) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data and structural context.
Q56* (p.Gln56Ter) variant details
- p.Gln56Ter
- Ensembl rs2147700780
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.747
- CADD 35.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available