P40S (p.Pro40Ser) variant of ALK (ALK tyrosine kinase receptor)
P40S (p.Pro40Ser) 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 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
P40S (p.Pro40Ser) variant details
- p.Pro40Ser
- rs371679329
- ClinGen CA1595044
- ClinVar RCV000544242
- ClinVar RCV004722906
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.37
- REVEL 0.15
- MetaLR 0.44
- MetaSVM -0.26
- CADD 25.10
- PolyPhen-2 0.99
- SIFT 0.01
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 5e-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)