N28I (p.Asn28Ile) variant of JAK2 (Tyrosine-protein kinase JAK2)
N28I (p.Asn28Ile) in JAK2 (Tyrosine-protein kinase JAK2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
N28I (p.Asn28Ile) variant details
- p.Asn28Ile
- gnomAD 9-5022070-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.221
- REVEL 0.14
- AlphaMissense 0.09
- MetaLR 0.25
- MetaSVM -0.91
- CADD 14.80
- PolyPhen-2 0.09
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available