A14P (p.Ala14Pro) variant of JAK1 (Tyrosine-protein kinase JAK1)
A14P (p.Ala14Pro) in JAK1 (Tyrosine-protein kinase JAK1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
A14P (p.Ala14Pro) variant details
- p.Ala14Pro
- ExAC rs754269005
- TOPMed rs754269005
- gnomAD rs754269005
- Missense
- Variant Prioritization Score for Impact Estimate 0.548
- REVEL 0.39
- CADD 23.50
- PolyPhen-2 0.63
- SIFT 0.41
- Most common in the Latino/Admixed American population (allele frequency 6.7e-05)
- Structural context available