A29V (p.Ala29Val) variant of ALK (ALK tyrosine kinase receptor)
A29V (p.Ala29Val) 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.
A29V (p.Ala29Val) variant details
- p.Ala29Val
- rs1667969126
- ClinGen CA346590716
- ClinVar RCV001228368
- Ensembl rs1667969126
- Uncertain significance
- Neuroblastoma, susceptibility to, 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.261
- REVEL 0.03
- MetaLR 0.15
- MetaSVM -1.02
- CADD 7.77
- PolyPhen-2 0.00
- SIFT 0.57
- ClinVar: Uncertain significance (Neuroblastoma, susceptibility to, 3)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.8e-05)
- Structural context available
- Cited in: ALK-Related Neuroblastic Tumor Susceptibility. (PMID 20301782)