G5S (p.Gly5Ser) variant of SYK (Tyrosine-protein kinase SYK)
G5S (p.Gly5Ser) in SYK (Tyrosine-protein kinase SYK) is a missense change. Clinical records from ClinVar and UniProt describe it as likely benign in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
G5S (p.Gly5Ser) variant details
- p.Gly5Ser
- cosmic curated COSV10943
- ESP rs146743944
- ExAC rs146743944
- TOPMed rs146743944
- Likely benign
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.298
- REVEL 0.12
- CADD 0.42
- PolyPhen-2 0.00
- SIFT 0.73
- ClinVar: Likely benign (not specified)
- UniProt: Likely benign
- Most common in the Ashkenazi Jewish population (allele frequency 0.014)
- Structural context available