R42L (p.Arg42Leu) variant of SYK (Tyrosine-protein kinase SYK)
R42L (p.Arg42Leu) in SYK (Tyrosine-protein kinase SYK) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes population frequency data and structural context.
R42L (p.Arg42Leu) variant details
- p.Arg42Leu
- TOPMed rs1408106520
- gnomAD rs1408106520
- Missense
- Variant Prioritization Score for Impact Estimate 0.913
- REVEL 0.98
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available