H12Q (p.His12Gln) variant of SYK (Tyrosine-protein kinase SYK)
H12Q (p.His12Gln) in SYK (Tyrosine-protein kinase SYK) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
H12Q (p.His12Gln) variant details
- p.His12Gln
- TOPMed rs1373206128
- gnomAD rs1373206128
- Missense
- Variant Prioritization Score for Impact Estimate 0.145
- REVEL 0.03
- CADD 18.00
- PolyPhen-2 0.01
- SIFT 0.07
- Population evidence available
- Structural context available