A14T (p.Ala14Thr) variant of JAK1 (Tyrosine-protein kinase JAK1)
A14T (p.Ala14Thr) in JAK1 (Tyrosine-protein kinase JAK1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
A14T (p.Ala14Thr) variant details
- p.Ala14Thr
- ExAC rs754269005
- TOPMed rs754269005
- gnomAD rs754269005
- Missense
- Variant Prioritization Score for Impact Estimate 0.468
- REVEL 0.27
- CADD 22.60
- PolyPhen-2 0.27
- SIFT 0.20
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available