T239A (p.Thr239Ala) variant of PRKAR1A (P10644)
T239A (p.Thr239Ala) 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.
T239A (p.Thr239Ala) variant details
- p.Thr239Ala
- rs2509430749
- ClinGen CA400753430
- ClinVar RCV003516379
- UniProt VAR 069458
- Pathogenic
- Carney complex, type 1
- Missense
- ClinVar: Pathogenic (Carney complex, type 1)
- EBI: Pathogenic (in ACRDYS1)
- UniProt: Pathogenic (in ACRDYS1)
- Structural context available
- Cited in: PRKAR1A mutation affecting cAMP-mediated G protein-coupled receptor signaling in a patient with acrodysostosis and… (PMID 22723333)
- Cited in: Carney Complex. (PMID 20301463)