L55P (p.Leu55Pro) variant of JAK2 (Tyrosine-protein kinase JAK2)
L55P (p.Leu55Pro) 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 0.59 / 1. The record also includes population frequency data and structural context.
L55P (p.Leu55Pro) variant details
- p.Leu55Pro
- NCI-TCGA Cosmic COSV6759
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.588
- REVEL 0.60
- AlphaMissense 0.90
- MetaLR 0.31
- MetaSVM -0.44
- CADD 24.70
- PolyPhen-2 1.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 5.4e-06)
- Structural context available