D8E (p.Asp8Glu) variant of SYK (Tyrosine-protein kinase SYK)
D8E (p.Asp8Glu) in SYK (Tyrosine-protein kinase SYK) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; high impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
D8E (p.Asp8Glu) variant details
- p.Asp8Glu
- TOPMed rs1303089710
- gnomAD rs1303089710
- NCI-TCGA TCGA novel
- Variant assessed as somatic; high impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.316
- REVEL 0.36
- CADD 17.80
- PolyPhen-2 0.10
- SIFT 0.04
- UniProt: Variant assessed as somatic; high impact.
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available