R42* (p.Arg42Ter) variant of PRKAR1A (P10644)
R42* (p.Arg42Ter) in PRKAR1A (P10644) 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 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
R42* (p.Arg42Ter) variant details
- p.Arg42Ter
- rs281864782
- ClinGen CA344422
- NCI-TCGA Cosmic COSV6223
- cosmic curated COSV62235
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.533
- CADD 35.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Carney Complex. (PMID 20301463)
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)