M8I (p.Met8Ile) variant of JAK2 (Tyrosine-protein kinase JAK2)
M8I (p.Met8Ile) in JAK2 (Tyrosine-protein kinase JAK2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
M8I (p.Met8Ile) variant details
- p.Met8Ile
- TOPMed rs1822464264
- gnomAD rs1822464264
- Missense
- Variant Prioritization Score for Impact Estimate 0.455
- REVEL 0.30
- AlphaMissense 0.31
- MetaLR 0.34
- MetaSVM -0.60
- CADD 21.40
- PolyPhen-2 0.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available