P11L (p.Pro11Leu) variant of ALK (ALK tyrosine kinase receptor)
P11L (p.Pro11Leu) 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 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
P11L (p.Pro11Leu) variant details
- p.Pro11Leu
- rs767822322
- ClinGen CA1595067
- ClinVar RCV000647453
- ClinVar RCV000997105
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.0901
- REVEL 0.03
- MetaLR 0.17
- MetaSVM -1.00
- CADD 3.33
- PolyPhen-2 0.00
- SIFT 0.62
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- 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)