P32A (p.Pro32Ala) variant of ALK (ALK tyrosine kinase receptor)
P32A (p.Pro32Ala) 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 Hereditary cancer-predisposing syndrome; Neuroblastoma, susceptibility to, 3; no. 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.
P32A (p.Pro32Ala) variant details
- p.Pro32Ala
- rs573276657
- ClinGen CA1595050
- ClinVar RCV000819579
- ClinVar RCV003489911
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Neuroblastoma, susceptibility to, 3; no
- Missense
- Variant Prioritization Score for Impact Estimate 0.147
- REVEL 0.08
- MetaLR 0.26
- MetaSVM -0.90
- CADD 3.59
- PolyPhen-2 0.00
- SIFT 0.17
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Neuroblastoma, suscepti)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3.4e-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)