C68C (p.Cys68Cys) variant of JAK2 (Tyrosine-protein kinase JAK2)
C68C (p.Cys68Cys) in JAK2 (Tyrosine-protein kinase JAK2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
C68C (p.Cys68Cys) variant details
- p.Cys68Cys
- rs1822475502
- gnomAD 9-5022191-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.441
- CADD 13.00
- Population evidence available
- Structural context available
- Literature evidence available