L13Q (p.Leu13Gln) variant of SYK (Tyrosine-protein kinase SYK)
L13Q (p.Leu13Gln) in SYK (Tyrosine-protein kinase SYK) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
L13Q (p.Leu13Gln) variant details
- p.Leu13Gln
- gnomAD 9-90843936-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.549
- REVEL 0.47
- CADD 28.50
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available