R23G (p.Arg23Gly) variant of ATM (Serine-protein kinase ATM)
R23G (p.Arg23Gly) in ATM (Serine-protein kinase ATM) is a missense 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 0.62 / 1. The record also includes published literature and structural context.
R23G (p.Arg23Gly) variant details
- p.Arg23Gly
- rs746235533
- ClinGen CA382519359
- ClinVar RCV000579793
- ClinVar RCV001508321
- Pathogenic
- in a colorectal adenocarcinoma sample
- Missense
- Variant Prioritization Score for Impact Estimate 0.623
- AlphaMissense 0.94
- MetaLR 0.57
- MetaSVM 0.24
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.79
- EBI: Pathogenic (in a colorectal adenocarcinoma sample)
- UniProt: Pathogenic (in a colorectal adenocarcinoma sample)
- 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)