A64A (p.Ala64Ala) variant of JAK2 (Tyrosine-protein kinase JAK2)
A64A (p.Ala64Ala) in JAK2 (Tyrosine-protein kinase JAK2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
A64A (p.Ala64Ala) variant details
- p.Ala64Ala
- rs778287602
- gnomAD 9-5022179-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.154
- CADD 10.30
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available
- Literature evidence available