R335P (p.Arg335Pro) variant of PRKAR1A (P10644)
R335P (p.Arg335Pro) in PRKAR1A (P10644) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Acrodysostosis 1 with or without hormone resistance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes published literature and structural context.
R335P (p.Arg335Pro) variant details
- p.Arg335Pro
- rs387906694
- ClinGen CA128749
- ClinVar RCV000022793
- UniProt VAR 069463
- Pathogenic
- Acrodysostosis 1 with or without hormone resistance
- Missense
- Variant Prioritization Score for Impact Estimate 0.919
- AlphaMissense 1.00
- MetaLR 0.90
- MetaSVM 1.00
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.93
- ClinVar: Pathogenic (Acrodysostosis 1 with or without hormone resistance)
- EBI: Pathogenic (in ACRDYS1)
- UniProt: Pathogenic (in ACRDYS1)
- Structural context available
- Cited in: Exome sequencing identifies PDE4D mutations in acrodysostosis. (PMID 22464252)
- Cited in: Recurrent PRKAR1A mutation in acrodysostosis with hormone resistance. (PMID 21651393)