T7R (p.Thr7Arg) variant of JAK2 (Tyrosine-protein kinase JAK2)
T7R (p.Thr7Arg) in JAK2 (Tyrosine-protein kinase JAK2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
T7R (p.Thr7Arg) variant details
- p.Thr7Arg
- gnomAD 9-5022007-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.418
- REVEL 0.42
- AlphaMissense 0.20
- MetaLR 0.27
- MetaSVM -0.64
- CADD 16.90
- PolyPhen-2 0.81
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available