G49C (p.Gly49Cys) variant of SYK (Tyrosine-protein kinase SYK)
G49C (p.Gly49Cys) 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, published literature, and structural context.
G49C (p.Gly49Cys) variant details
- p.Gly49Cys
- gnomAD 9-90844043-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.909
- REVEL 0.98
- CADD 29.30
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available