R22Q (p.Arg22Gln) variant of SYK (Tyrosine-protein kinase SYK)
R22Q (p.Arg22Gln) in SYK (Tyrosine-protein kinase SYK) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data and structural context.
R22Q (p.Arg22Gln) variant details
- p.Arg22Gln
- cosmic curated COSV65328
- ESP rs140421546
- ExAC rs140421546
- TOPMed rs140421546
- Missense
- Variant Prioritization Score for Impact Estimate 0.832
- REVEL 0.91
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available