T7T (p.Thr7Thr) variant of JAK2 (Tyrosine-protein kinase JAK2)
T7T (p.Thr7Thr) in JAK2 (Tyrosine-protein kinase JAK2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
T7T (p.Thr7Thr) variant details
- p.Thr7Thr
- rs776155206
- gnomAD 9-5022008-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0952
- CADD 2.06
- Most common in the South Asian population (allele frequency 4.6e-05)
- Structural context available
- Literature evidence available