N22N (p.Asn22Asn) variant of JAK2 (Tyrosine-protein kinase JAK2)
N22N (p.Asn22Asn) in JAK2 (Tyrosine-protein kinase JAK2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
N22N (p.Asn22Asn) variant details
- p.Asn22Asn
- rs1822467315
- gnomAD 9-5022053-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.369
- CADD 8.66
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available