T16R (p.Thr16Arg) variant of ALK (ALK tyrosine kinase receptor)
T16R (p.Thr16Arg) 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 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
T16R (p.Thr16Arg) variant details
- p.Thr16Arg
- rs542229113
- ClinGen CA346590790
- ClinVar RCV003634662
- 1000Genomes rs542229113
- Uncertain significance
- Neuroblastoma, susceptibility to, 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.246
- REVEL 0.01
- MetaLR 0.15
- MetaSVM -1.00
- CADD 9.93
- PolyPhen-2 0.00
- SIFT 0.32
- ClinVar: Uncertain significance (Neuroblastoma, susceptibility to, 3)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 2.8e-05)
- Structural context available
- Cited in: ALK-Related Neuroblastic Tumor Susceptibility. (PMID 20301782)