Y62C (p.Tyr62Cys) variant of JAK2 (Tyrosine-protein kinase JAK2)
Y62C (p.Tyr62Cys) in JAK2 (Tyrosine-protein kinase JAK2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
Y62C (p.Tyr62Cys) variant details
- p.Tyr62Cys
- ESP rs139087749
- ExAC rs139087749
- TOPMed rs139087749
- gnomAD rs139087749
- Missense
- Variant Prioritization Score for Impact Estimate 0.498
- REVEL 0.41
- AlphaMissense 0.31
- MetaLR 0.31
- MetaSVM -0.44
- CADD 26.50
- PolyPhen-2 1.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available