Q28* (p.Gln28Ter) variant of PRKAR1A (P10644)
Q28* (p.Gln28Ter) in PRKAR1A (P10644) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes published literature and structural context.
Q28* (p.Gln28Ter) variant details
- p.Gln28Ter
- rs281864780
- ClinGen CA344454
- cosmic curated COSV10067
- ClinVar RCV000034296
- Likely pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.489
- AlphaMissense 0.36
- MetaLR 0.50
- MetaSVM -0.20
- PolyPhen-2 0.16
- SIFT 0.12
- MutPred 0.57
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- 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)