R16* (p.Arg16Ter) variant of PRKAR1A (P10644)
R16* (p.Arg16Ter) 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 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
R16* (p.Arg16Ter) variant details
- p.Arg16Ter
- rs886041228
- ClinGen CA10603402
- ClinVar RCV000265264
- ClinVar RCV000558438
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.467
- AlphaMissense 0.26
- MetaLR 0.46
- MetaSVM -0.07
- PolyPhen-2 0.35
- SIFT 0.01
- MutPred 0.52
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- 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)