p.Cys68 Ile69delinsPhe variant of JAK2 (Tyrosine-protein kinase JAK2)
p.Cys68 Ile69delinsPhe in JAK2 (Tyrosine-protein kinase JAK2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
p.Cys68 Ile69delinsPhe variant details
- gnomAD 9-5022189-TGTA-T
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.583
- CADD 19.70
- Population evidence available
- Structural context available
- Literature evidence available