T96A (p.Thr96Ala) variant of JAK1 (Tyrosine-protein kinase JAK1)
T96A (p.Thr96Ala) in JAK1 (Tyrosine-protein kinase JAK1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
T96A (p.Thr96Ala) variant details
- p.Thr96Ala
- ExAC rs769890595
- gnomAD rs769890595
- Missense
- Variant Prioritization Score for Impact Estimate 0.228
- REVEL 0.11
- CADD 20.30
- PolyPhen-2 0.01
- SIFT 0.31
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available