F293I (p.Phe293Ile) variant of PRKAR1A (P10644)
F293I (p.Phe293Ile) in PRKAR1A (P10644) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Carney complex, type 1. The record also includes published literature and structural context.
F293I (p.Phe293Ile) variant details
- p.Phe293Ile
- rs2509438133
- ClinGen CA400754025
- ClinVar RCV002856759
- Pathogenic
- Carney complex, type 1
- Missense
- ClinVar: Pathogenic (Carney complex, type 1)
- EBI: Pathogenic
- UniProt: 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)