T14A (p.Thr14Ala) variant of JAK2 (Tyrosine-protein kinase JAK2)
T14A (p.Thr14Ala) in JAK2 (Tyrosine-protein kinase JAK2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
T14A (p.Thr14Ala) variant details
- p.Thr14Ala
- TOPMed rs1822464904
- Missense
- Variant Prioritization Score for Impact Estimate 0.262
- REVEL 0.22
- AlphaMissense 0.06
- MetaLR 0.28
- MetaSVM -0.72
- CADD 3.88
- PolyPhen-2 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available