T94I (p.Thr94Ile) variant of JAK1 (Tyrosine-protein kinase JAK1)
T94I (p.Thr94Ile) in JAK1 (Tyrosine-protein kinase JAK1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
T94I (p.Thr94Ile) variant details
- p.Thr94Ile
- TOPMed rs1272401704
- gnomAD rs1272401704
- Missense
- Variant Prioritization Score for Impact Estimate 0.28
- REVEL 0.16
- CADD 5.59
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available