Y54C (p.Tyr54Cys) variant of JAK2 (Tyrosine-protein kinase JAK2)
Y54C (p.Tyr54Cys) in JAK2 (Tyrosine-protein kinase JAK2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
Y54C (p.Tyr54Cys) variant details
- p.Tyr54Cys
- gnomAD 9-5022148-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.323
- REVEL 0.28
- AlphaMissense 0.07
- MetaLR 0.18
- MetaSVM -0.84
- CADD 20.00
- PolyPhen-2 0.91
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available