T96S (p.Thr96Ser) variant of JAK1 (Tyrosine-protein kinase JAK1)
T96S (p.Thr96Ser) in JAK1 (Tyrosine-protein kinase JAK1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
T96S (p.Thr96Ser) variant details
- p.Thr96Ser
- ExAC rs769890595
- gnomAD rs769890595
- Missense
- Variant Prioritization Score for Impact Estimate 0.22
- REVEL 0.11
- CADD 18.60
- PolyPhen-2 0.01
- SIFT 0.41
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available