R41W (p.Arg41Trp) variant of ALK (ALK tyrosine kinase receptor)
R41W (p.Arg41Trp) in ALK (ALK tyrosine kinase receptor) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
R41W (p.Arg41Trp) variant details
- p.Arg41Trp
- rs878854653
- ClinGen CA10581967
- ClinVar RCV000234239
- gnomAD rs878854653
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.347
- REVEL 0.10
- MetaLR 0.37
- MetaSVM -0.34
- CADD 29.40
- PolyPhen-2 0.65
- SIFT 0.00
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available
- Cited in: ALK-Related Neuroblastic Tumor Susceptibility. (PMID 20301782)