T9I (p.Thr9Ile) variant of JAK2 (Tyrosine-protein kinase JAK2)
T9I (p.Thr9Ile) in JAK2 (Tyrosine-protein kinase JAK2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
T9I (p.Thr9Ile) variant details
- p.Thr9Ile
- TOPMed rs1194427389
- Missense
- Variant Prioritization Score for Impact Estimate 0.459
- REVEL 0.40
- AlphaMissense 0.30
- MetaLR 0.37
- MetaSVM -0.37
- CADD 21.10
- PolyPhen-2 0.32
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available