P36R (p.Pro36Arg) variant of ALK (ALK tyrosine kinase receptor)
P36R (p.Pro36Arg) in ALK (ALK tyrosine kinase receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Neuroblastoma, susceptibility to, 3. The record also includes variant effect predictions, published literature, and structural context.
P36R (p.Pro36Arg) variant details
- p.Pro36Arg
- rs773691688
- ClinGen CA346590682
- ClinVar RCV001364672
- ExAC rs773691688
- Uncertain significance
- Neuroblastoma, susceptibility to, 3
- Missense
- MutPred 0.28
- ClinVar: Uncertain significance (Neuroblastoma, susceptibility to, 3)
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available
- Cited in: ALK-Related Neuroblastic Tumor Susceptibility. (PMID 20301782)