G48G (p.Gly48Gly) variant of JAK2 (Tyrosine-protein kinase JAK2)
G48G (p.Gly48Gly) in JAK2 (Tyrosine-protein kinase JAK2) is a synonymous 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.
G48G (p.Gly48Gly) variant details
- p.Gly48Gly
- gnomAD 9-5022131-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.224
- CADD 8.35
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available