A52V (p.Ala52Val) variant of JAK2 (Tyrosine-protein kinase JAK2)
A52V (p.Ala52Val) in JAK2 (Tyrosine-protein kinase JAK2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
A52V (p.Ala52Val) variant details
- p.Ala52Val
- TOPMed rs1822472204
- gnomAD rs1822472204
- Missense
- Variant Prioritization Score for Impact Estimate 0.211
- REVEL 0.07
- AlphaMissense 0.09
- MetaLR 0.14
- MetaSVM -1.05
- CADD 13.80
- PolyPhen-2 0.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available