T119I (p.Thr119Ile) variant of JAK1 (Tyrosine-protein kinase JAK1)
T119I (p.Thr119Ile) in JAK1 (Tyrosine-protein kinase JAK1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
T119I (p.Thr119Ile) variant details
- p.Thr119Ile
- ExAC rs778588460
- TOPMed rs778588460
- gnomAD rs778588460
- Missense
- Variant Prioritization Score for Impact Estimate 0.379
- REVEL 0.10
- CADD 23.60
- PolyPhen-2 0.60
- SIFT 0.09
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available