G4C (p.Gly4Cys) variant of PRKAR1A (P10644)
G4C (p.Gly4Cys) 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 available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes published literature and structural context.
G4C (p.Gly4Cys) variant details
- p.Gly4Cys
- rs2143148487
- ClinGen CA400751775
- ClinVar RCV003034997
- Ensembl rs2143148487
- Uncertain significance
- Carney complex, type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.463
- AlphaMissense 0.11
- MetaLR 0.47
- MetaSVM -0.23
- PolyPhen-2 0.53
- SIFT 0.03
- MutPred 0.13
- 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)