R23* (p.Arg23Ter) variant of ATM (Serine-protein kinase ATM)
R23* (p.Arg23Ter) in ATM (Serine-protein kinase ATM) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in a colorectal adenocarcinoma sample. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
R23* (p.Arg23Ter) variant details
- p.Arg23Ter
- rs746235533
- ClinGen CA6264503
- NCI-TCGA Cosmic COSV5373
- cosmic curated COSV53733
- Pathogenic
- in a colorectal adenocarcinoma sample
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.664
- AlphaMissense 0.94
- MetaLR 0.57
- MetaSVM 0.24
- CADD 36.00
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Pathogenic (in a colorectal adenocarcinoma sample)
- UniProt: Pathogenic (in a colorectal adenocarcinoma sample)
- Most common in the 1KG:GIH population (allele frequency 0.0053)
- Structural context available
- Cited in: EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias. (PMID 20050888)
- Cited in: Hereditary Ataxia Overview. (PMID 20301317)