G4F (p.Gly4Phe) variant of PRKAR1A (P10644)
G4F (p.Gly4Phe) in PRKAR1A (P10644) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Carney complex, type 1. The record also includes published literature and structural context.
G4F (p.Gly4Phe) variant details
- p.Gly4Phe
- rs2143148523
- ClinGen CA2573154854
- ClinVar RCV002038024
- Ensembl rs2143148523
- Uncertain significance
- Carney complex, type 1
- Missense
- ClinVar: Uncertain significance (Carney complex, type 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)