R45L (p.Arg45Leu) variant of SYK (Tyrosine-protein kinase SYK)
R45L (p.Arg45Leu) in SYK (Tyrosine-protein kinase SYK) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data and structural context.
R45L (p.Arg45Leu) variant details
- p.Arg45Leu
- ExAC rs16906862
- gnomAD rs16906862
- Missense
- Variant Prioritization Score for Impact Estimate 0.684
- REVEL 0.64
- CADD 23.30
- PolyPhen-2 1.00
- SIFT 1.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available