G26S (p.Gly26Ser) variant of ALK (ALK tyrosine kinase receptor)
G26S (p.Gly26Ser) 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 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
G26S (p.Gly26Ser) variant details
- p.Gly26Ser
- rs1060500214
- ClinGen CA16610758
- ClinVar RCV000458240
- ClinVar RCV004591288
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.126
- REVEL 0.03
- MetaLR 0.17
- MetaSVM -0.99
- CADD 9.47
- PolyPhen-2 0.00
- SIFT 0.21
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- 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)