T114A (p.Thr114Ala) variant of JAK1 (Tyrosine-protein kinase JAK1)
T114A (p.Thr114Ala) in JAK1 (Tyrosine-protein kinase JAK1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
T114A (p.Thr114Ala) variant details
- p.Thr114Ala
- TOPMed rs1278612499
- Missense
- Variant Prioritization Score for Impact Estimate 0.311
- REVEL 0.10
- CADD 23.70
- PolyPhen-2 0.06
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 6.3e-06)
- Structural context available