R45H (p.Arg45His) variant of SYK (Tyrosine-protein kinase SYK)
R45H (p.Arg45His) in SYK (Tyrosine-protein kinase SYK) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
R45H (p.Arg45His) variant details
- p.Arg45His
- rs16906862
- cosmic curated COSV65327
- UniProt VAR 033838
- ExAC rs16906862
- Missense
- Variant Prioritization Score for Impact Estimate 0.628
- REVEL 0.51
- CADD 27.80
- PolyPhen-2 1.00
- SIFT 0.01
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available