S5G (p.Ser5Gly) variant of JAK3 (Tyrosine-protein kinase JAK3)
S5G (p.Ser5Gly) in JAK3 (Tyrosine-protein kinase JAK3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
S5G (p.Ser5Gly) variant details
- p.Ser5Gly
- ExAC rs773632633
- TOPMed rs773632633
- gnomAD rs773632633
- Missense
- Variant Prioritization Score for Impact Estimate 0.177
- REVEL 0.14
- CADD 4.57
- PolyPhen-2 0.00
- SIFT 0.99
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available