R39* (p.Arg39Ter) variant of DCX (O43602)
R39* (p.Arg39Ter) in DCX (O43602) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
R39* (p.Arg39Ter) variant details
- p.Arg39Ter
- rs587783519
- ClinGen CA171846
- NCI-TCGA Cosmic COSV5756
- NCI-TCGA Cosmic COSV5757
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.314
- CADD 33.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)