S44R (p.Ser44Arg) variant of SYK (Tyrosine-protein kinase SYK)
S44R (p.Ser44Arg) in SYK (Tyrosine-protein kinase SYK) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
S44R (p.Ser44Arg) variant details
- p.Ser44Arg
- gnomAD 9-90844030-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.652
- REVEL 0.81
- CADD 20.80
- PolyPhen-2 1.00
- SIFT 0.06
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available