R22W (p.Arg22Trp) variant of SYK (Tyrosine-protein kinase SYK)
R22W (p.Arg22Trp) in SYK (Tyrosine-protein kinase SYK) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
R22W (p.Arg22Trp) variant details
- p.Arg22Trp
- rs1564088424
- Ensembl rs1564088424
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.731
- REVEL 0.89
- CADD 26.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available