A52T (p.Ala52Thr) variant of JAK2 (Tyrosine-protein kinase JAK2)
A52T (p.Ala52Thr) in JAK2 (Tyrosine-protein kinase JAK2) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
A52T (p.Ala52Thr) variant details
- p.Ala52Thr
- rs369833874
- ESP rs369833874
- TOPMed rs369833874
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.343
- REVEL 0.12
- AlphaMissense 0.07
- MetaLR 0.18
- MetaSVM -0.92
- CADD 19.90
- PolyPhen-2 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 6e-05)
- Structural context available