S4R (p.Ser4Arg) variant of SYK (Tyrosine-protein kinase SYK)
S4R (p.Ser4Arg) in SYK (Tyrosine-protein kinase SYK) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
S4R (p.Ser4Arg) variant details
- p.Ser4Arg
- gnomAD 9-90843910-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.298
- REVEL 0.20
- CADD 14.30
- PolyPhen-2 0.10
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Literature evidence available