N22I (p.Asn22Ile) variant of JAK2 (Tyrosine-protein kinase JAK2)
N22I (p.Asn22Ile) in JAK2 (Tyrosine-protein kinase JAK2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
N22I (p.Asn22Ile) variant details
- p.Asn22Ile
- gnomAD 9-5022051-A-AT
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.641
- CADD 27.00
- Population evidence available
- Structural context available
- Literature evidence available