T7N (p.Thr7Asn) variant of JAK2 (Tyrosine-protein kinase JAK2)
T7N (p.Thr7Asn) in JAK2 (Tyrosine-protein kinase JAK2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
T7N (p.Thr7Asn) variant details
- p.Thr7Asn
- gnomAD 9-5022005-T-TA
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.351
- CADD 25.30
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available