G2R (p.Gly2Arg) variant of ALK (ALK tyrosine kinase receptor)
G2R (p.Gly2Arg) 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 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
G2R (p.Gly2Arg) variant details
- p.Gly2Arg
- rs1667974338
- ClinGen CA346590871
- ClinVar RCV001236481
- Ensembl rs1667974338
- Uncertain significance
- Neuroblastoma, susceptibility to, 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.215
- REVEL 0.05
- MetaLR 0.45
- MetaSVM -0.60
- CADD 19.40
- PolyPhen-2 0.00
- SIFT 0.02
- 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)