G23V (p.Gly23Val) variant of JAK2 (Tyrosine-protein kinase JAK2)
G23V (p.Gly23Val) in JAK2 (Tyrosine-protein kinase JAK2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
G23V (p.Gly23Val) variant details
- p.Gly23Val
- gnomAD 9-5022053-TG-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.518
- CADD 28.10
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available