I35R (p.Ile35Arg) variant of JAK2 (Tyrosine-protein kinase JAK2)
I35R (p.Ile35Arg) in JAK2 (Tyrosine-protein kinase JAK2) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
I35R (p.Ile35Arg) variant details
- p.Ile35Arg
- ExAC rs761588246
- TOPMed rs761588246
- gnomAD rs761588246
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.189
- REVEL 0.17
- AlphaMissense 0.07
- MetaLR 0.23
- MetaSVM -0.94
- CADD 11.40
- PolyPhen-2 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available