T16I (p.Thr16Ile) variant of JAK2 (Tyrosine-protein kinase JAK2)
T16I (p.Thr16Ile) in JAK2 (Tyrosine-protein kinase JAK2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
T16I (p.Thr16Ile) variant details
- p.Thr16Ile
- gnomAD 9-5022034-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.228
- REVEL 0.17
- AlphaMissense 0.09
- MetaLR 0.29
- MetaSVM -0.89
- CADD 3.68
- PolyPhen-2 0.00
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available
- Literature evidence available