A34V (p.Ala34Val) variant of ALK (ALK tyrosine kinase receptor)
A34V (p.Ala34Val) 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; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
A34V (p.Ala34Val) variant details
- p.Ala34Val
- rs1572503974
- ClinGen CA346590691
- ClinVar RCV000815730
- ClinVar RCV002363130
- Uncertain significance
- Neuroblastoma, susceptibility to, 3; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.103
- REVEL 0.08
- MetaLR 0.17
- MetaSVM -0.93
- CADD 0.13
- PolyPhen-2 0.00
- SIFT 0.35
- ClinVar: Uncertain significance (Neuroblastoma, susceptibility to, 3; Hereditary cancer-predispos)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)