T56I (p.Thr56Ile) variant of JAK1 (Tyrosine-protein kinase JAK1)
T56I (p.Thr56Ile) in JAK1 (Tyrosine-protein kinase JAK1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
T56I (p.Thr56Ile) variant details
- p.Thr56Ile
- Ensembl rs2101264464
- Missense
- Variant Prioritization Score for Impact Estimate 0.631
- REVEL 0.51
- CADD 27.30
- PolyPhen-2 1.00
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available