L40F (p.Leu40Phe) variant of SYK (Tyrosine-protein kinase SYK)
L40F (p.Leu40Phe) in SYK (Tyrosine-protein kinase SYK) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
L40F (p.Leu40Phe) variant details
- p.Leu40Phe
- TOPMed rs1352390840
- gnomAD rs1352390840
- Missense
- Variant Prioritization Score for Impact Estimate 0.571
- REVEL 0.49
- CADD 25.70
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available