E22Q (p.Glu22Gln) variant of JAK3 (Tyrosine-protein kinase JAK3)
E22Q (p.Glu22Gln) in JAK3 (Tyrosine-protein kinase JAK3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
E22Q (p.Glu22Gln) variant details
- p.Glu22Gln
- TOPMed rs200065012
- gnomAD rs200065012
- Missense
- Variant Prioritization Score for Impact Estimate 0.475
- REVEL 0.25
- CADD 24.10
- PolyPhen-2 0.85
- SIFT 0.10
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available