M32L (p.Met32Leu) variant of JAK2 (Tyrosine-protein kinase JAK2)
M32L (p.Met32Leu) in JAK2 (Tyrosine-protein kinase JAK2) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes variant effect predictions and structural context.
M32L (p.Met32Leu) variant details
- p.Met32Leu
- ExAC rs778174935
- TOPMed rs778174935
- gnomAD rs778174935
- Uncertain significance
- Missense
- MetaLR 0.15
- MetaSVM -0.99
- SIFT 0.27
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available