G18C (p.Gly18Cys) variant of SYK (Tyrosine-protein kinase SYK)
G18C (p.Gly18Cys) in SYK (Tyrosine-protein kinase SYK) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
G18C (p.Gly18Cys) variant details
- p.Gly18Cys
- gnomAD 9-90843950-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.717
- REVEL 0.65
- CADD 29.70
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available