R45C (p.Arg45Cys) variant of SYK (Tyrosine-protein kinase SYK)
R45C (p.Arg45Cys) in SYK (Tyrosine-protein kinase SYK) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data and structural context.
R45C (p.Arg45Cys) variant details
- p.Arg45Cys
- cosmic curated COSV10100
- TOPMed rs1235073402
- gnomAD rs1235073402
- Missense
- Variant Prioritization Score for Impact Estimate 0.796
- REVEL 0.78
- CADD 29.50
- PolyPhen-2 1.00
- SIFT 0.02
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available