I19M (p.Ile19Met) variant of JAK2 (Tyrosine-protein kinase JAK2)
I19M (p.Ile19Met) in JAK2 (Tyrosine-protein kinase JAK2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
I19M (p.Ile19Met) variant details
- p.Ile19Met
- gnomAD rs1302672595
- Missense
- Variant Prioritization Score for Impact Estimate 0.145
- REVEL 0.12
- AlphaMissense 0.07
- MetaLR 0.24
- MetaSVM -0.93
- CADD 0.69
- PolyPhen-2 0.00
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available