C5Y (p.Cys5Tyr) variant of JAK2 (Tyrosine-protein kinase JAK2)
C5Y (p.Cys5Tyr) in JAK2 (Tyrosine-protein kinase JAK2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
C5Y (p.Cys5Tyr) variant details
- p.Cys5Tyr
- gnomAD 9-5022001-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.599
- REVEL 0.52
- AlphaMissense 0.31
- MetaLR 0.52
- MetaSVM 0.08
- CADD 23.90
- PolyPhen-2 0.98
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)
- Structural context available
- Literature evidence available