S17G (p.Ser17Gly) variant of JAK3 (Tyrosine-protein kinase JAK3)
S17G (p.Ser17Gly) 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.
S17G (p.Ser17Gly) variant details
- p.Ser17Gly
- Ensembl rs1568408440
- Missense
- Variant Prioritization Score for Impact Estimate 0.481
- REVEL 0.37
- CADD 25.10
- PolyPhen-2 0.98
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available