G49S (p.Gly49Ser) variant of SYK (Tyrosine-protein kinase SYK)
G49S (p.Gly49Ser) in SYK (Tyrosine-protein kinase SYK) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data and structural context.
G49S (p.Gly49Ser) variant details
- p.Gly49Ser
- rs2118631757
- ClinGen CA373790003
- ClinVar RCV003425704
- NCI-TCGA TCGA novel
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.858
- REVEL 0.90
- CADD 28.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available