I25T (p.Ile25Thr) variant of JAK2 (Tyrosine-protein kinase JAK2)
I25T (p.Ile25Thr) 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.
I25T (p.Ile25Thr) variant details
- p.Ile25Thr
- gnomAD rs1339135099
- Missense
- Variant Prioritization Score for Impact Estimate 0.413
- REVEL 0.29
- AlphaMissense 0.11
- MetaLR 0.39
- MetaSVM -0.47
- CADD 22.10
- PolyPhen-2 0.01
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available