S15Y (p.Ser15Tyr) variant of JAK2 (Tyrosine-protein kinase JAK2)
S15Y (p.Ser15Tyr) in JAK2 (Tyrosine-protein kinase JAK2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
S15Y (p.Ser15Tyr) variant details
- p.Ser15Tyr
- gnomAD 9-5022031-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.37
- REVEL 0.25
- AlphaMissense 0.11
- MetaLR 0.34
- MetaSVM -0.51
- CADD 17.60
- PolyPhen-2 0.21
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available