K49K (p.Lys49Lys) variant of JAK2 (Tyrosine-protein kinase JAK2)
K49K (p.Lys49Lys) in JAK2 (Tyrosine-protein kinase JAK2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
K49K (p.Lys49Lys) variant details
- p.Lys49Lys
- rs774158685
- gnomAD 9-5022134-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.196
- CADD 7.27
- Population evidence available
- Structural context available
- Literature evidence available