A4A (p.Ala4Ala) variant of JAK2 (Tyrosine-protein kinase JAK2)
A4A (p.Ala4Ala) in JAK2 (Tyrosine-protein kinase JAK2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
A4A (p.Ala4Ala) variant details
- p.Ala4Ala
- rs760970893
- gnomAD 9-5021999-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.3
- CADD 6.87
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available
- Literature evidence available