I69M (p.Ile69Met) variant of JAK2 (Tyrosine-protein kinase JAK2)
I69M (p.Ile69Met) in JAK2 (Tyrosine-protein kinase JAK2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
I69M (p.Ile69Met) variant details
- p.Ile69Met
- gnomAD rs1159373106
- Missense
- Variant Prioritization Score for Impact Estimate 0.31
- REVEL 0.21
- AlphaMissense 0.11
- MetaLR 0.36
- MetaSVM -0.61
- CADD 23.00
- PolyPhen-2 0.18
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available