A52A (p.Ala52Ala) variant of JAK2 (Tyrosine-protein kinase JAK2)
A52A (p.Ala52Ala) in JAK2 (Tyrosine-protein kinase JAK2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
A52A (p.Ala52Ala) variant details
- p.Ala52Ala
- rs1822472342
- gnomAD 9-5022143-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.56
- CADD 8.84
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available