R42C (p.Arg42Cys) variant of SYK (Tyrosine-protein kinase SYK)
R42C (p.Arg42Cys) in SYK (Tyrosine-protein kinase SYK) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data and structural context.
R42C (p.Arg42Cys) variant details
- p.Arg42Cys
- cosmic curated COSV65325
- Ensembl rs2118630902
- Missense
- Variant Prioritization Score for Impact Estimate 0.891
- REVEL 0.95
- CADD 28.70
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available