P36S (p.Pro36Ser) variant of ALK (ALK tyrosine kinase receptor)
P36S (p.Pro36Ser) in ALK (ALK tyrosine kinase receptor) is a missense change. Clinical records from EBI and UniProt describe it as 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.
P36S (p.Pro36Ser) variant details
- p.Pro36Ser
- rs201490095
- ClinGen CA156587
- ClinVar RCV000119961
- ClinVar RCV000459437
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.168
- REVEL 0.09
- MetaLR 0.20
- MetaSVM -0.98
- CADD 10.20
- PolyPhen-2 0.00
- SIFT 0.40
- EBI: Benign
- UniProt: 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)