M11I (p.Met11Ile) variant of JAK2 (Tyrosine-protein kinase JAK2)
M11I (p.Met11Ile) in JAK2 (Tyrosine-protein kinase JAK2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
M11I (p.Met11Ile) variant details
- p.Met11Ile
- TOPMed rs945180127
- Missense
- Variant Prioritization Score for Impact Estimate 0.412
- REVEL 0.28
- AlphaMissense 0.33
- MetaLR 0.32
- MetaSVM -0.66
- CADD 20.30
- PolyPhen-2 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available