L53M (p.Leu53Met) variant of JAK3 (Tyrosine-protein kinase JAK3)
L53M (p.Leu53Met) in JAK3 (Tyrosine-protein kinase JAK3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
L53M (p.Leu53Met) variant details
- p.Leu53Met
- TOPMed rs1296361489
- gnomAD rs1296361489
- Missense
- Variant Prioritization Score for Impact Estimate 0.364
- REVEL 0.39
- CADD 22.90
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available