R23Q (p.Arg23Gln) variant of ATM (Serine-protein kinase ATM)
R23Q (p.Arg23Gln) in ATM (Serine-protein kinase ATM) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance in the context of in a colorectal adenocarcinoma sample. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
R23Q (p.Arg23Gln) variant details
- p.Arg23Gln
- rs587779858
- ClinGen CA286947
- NCI-TCGA Cosmic COSV5374
- cosmic curated COSV53740
- Uncertain significance
- in a colorectal adenocarcinoma sample
- Missense
- Variant Prioritization Score for Impact Estimate 0.723
- AlphaMissense 0.72
- MetaLR 0.57
- MetaSVM 0.25
- CADD 29.80
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Variant of uncertain significance (in a colorectal adenocarcinoma sample)
- UniProt: Uncertain significance (in a colorectal adenocarcinoma sample)
- Most common in the Middle Eastern population (allele frequency 0.0011)
- Structural context available
- Cited in: Patterns of somatic mutation in human cancer genomes. (PMID 17344846)
- Cited in: EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias. (PMID 20050888)