A3V (p.Ala3Val) variant of ALK (ALK tyrosine kinase receptor)
A3V (p.Ala3Val) 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 available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
A3V (p.Ala3Val) variant details
- p.Ala3Val
- rs2148444184
- ClinGen CA346590860
- ClinVar RCV002623420
- Ensembl rs2148444184
- Uncertain significance
- Neuroblastoma, susceptibility to, 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.263
- REVEL 0.13
- MetaLR 0.39
- MetaSVM -0.75
- CADD 20.30
- PolyPhen-2 0.02
- SIFT 0.01
- ClinVar: Uncertain significance (Neuroblastoma, susceptibility to, 3)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: ALK-Related Neuroblastic Tumor Susceptibility. (PMID 20301782)