K33M (p.Lys33Met) variant of JAK2 (Tyrosine-protein kinase JAK2)
K33M (p.Lys33Met) in JAK2 (Tyrosine-protein kinase JAK2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
K33M (p.Lys33Met) variant details
- p.Lys33Met
- TOPMed rs538474116
- gnomAD rs538474116
- Missense
- Variant Prioritization Score for Impact Estimate 0.389
- REVEL 0.39
- AlphaMissense 0.17
- MetaLR 0.30
- MetaSVM -0.65
- CADD 23.40
- PolyPhen-2 0.84
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available