S59A (p.Ser59Ala) variant of JAK2 (Tyrosine-protein kinase JAK2)
S59A (p.Ser59Ala) in JAK2 (Tyrosine-protein kinase JAK2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data and structural context.
S59A (p.Ser59Ala) variant details
- p.Ser59Ala
- gnomAD rs1312201445
- Missense
- Variant Prioritization Score for Impact Estimate 0.0804
- REVEL 0.01
- AlphaMissense 0.05
- MetaLR 0.03
- MetaSVM -1.00
- CADD 0.02
- PolyPhen-2 0.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available