G5R (p.Gly5Arg) variant of ALK (ALK tyrosine kinase receptor)
G5R (p.Gly5Arg) 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 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
G5R (p.Gly5Arg) variant details
- p.Gly5Arg
- rs1272214012
- ClinGen CA346590852
- ClinVar RCV000534322
- ClinVar RCV004948437
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.167
- REVEL 0.05
- MetaLR 0.23
- MetaSVM -0.94
- CADD 18.50
- PolyPhen-2 0.00
- SIFT 0.01
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 2.3e-05)
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)
- Cited in: ALK-Related Neuroblastic Tumor Susceptibility. (PMID 20301782)