R28H (p.Arg28His) variant of ALK (ALK tyrosine kinase receptor)
R28H (p.Arg28His) 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 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
R28H (p.Arg28His) variant details
- p.Arg28His
- rs1667969323
- ClinGen CA346590724
- ClinVar RCV001327171
- Ensembl rs1667969323
- Uncertain significance
- Neuroblastoma, susceptibility to, 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.271
- REVEL 0.03
- MetaLR 0.18
- MetaSVM -0.97
- CADD 16.40
- PolyPhen-2 0.06
- SIFT 0.19
- 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)