A93T (p.Ala93Thr) variant of JAK3 (Tyrosine-protein kinase JAK3)
A93T (p.Ala93Thr) in JAK3 (Tyrosine-protein kinase JAK3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
A93T (p.Ala93Thr) variant details
- p.Ala93Thr
- TOPMed rs1219986698
- gnomAD rs1219986698
- Missense
- Variant Prioritization Score for Impact Estimate 0.147
- REVEL 0.18
- CADD 3.16
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available