S17T (p.Ser17Thr) variant of JAK3 (Tyrosine-protein kinase JAK3)
S17T (p.Ser17Thr) in JAK3 (Tyrosine-protein kinase JAK3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
S17T (p.Ser17Thr) variant details
- p.Ser17Thr
- TOPMed rs2094247284
- Missense
- Variant Prioritization Score for Impact Estimate 0.488
- REVEL 0.28
- CADD 24.70
- PolyPhen-2 0.98
- SIFT 0.01
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available