Q96E (p.Gln96Glu) variant of JAK3 (Tyrosine-protein kinase JAK3)
Q96E (p.Gln96Glu) in JAK3 (Tyrosine-protein kinase JAK3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
Q96E (p.Gln96Glu) variant details
- p.Gln96Glu
- TOPMed rs2094245638
- gnomAD rs2094245638
- Missense
- Variant Prioritization Score for Impact Estimate 0.349
- REVEL 0.12
- CADD 14.20
- PolyPhen-2 0.26
- SIFT 1.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available