P36L (p.Pro36Leu) variant of ALK (ALK tyrosine kinase receptor)
P36L (p.Pro36Leu) 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 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
P36L (p.Pro36Leu) variant details
- p.Pro36Leu
- rs773691688
- ClinGen CA1595046
- ClinVar RCV000525534
- ClinVar RCV002420484
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.153
- REVEL 0.02
- MetaLR 0.23
- MetaSVM -0.94
- CADD 14.50
- PolyPhen-2 0.02
- SIFT 0.23
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:MBUTI population (allele frequency 0.083)
- 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)