R16Q (p.Arg16Gln) variant of PRKAR1A (P10644)
R16Q (p.Arg16Gln) in PRKAR1A (P10644) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome; not specified; Carney complex, type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes published literature and structural context.
R16Q (p.Arg16Gln) variant details
- p.Arg16Gln
- rs2085401218
- ClinGen CA400751852
- cosmic curated COSV62235
- ClinVar RCV001341395
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not specified; Carney complex, type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.414
- AlphaMissense 0.10
- MetaLR 0.40
- MetaSVM -0.42
- PolyPhen-2 0.02
- SIFT 0.37
- MutPred 0.49
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; not specified; Carney c)
- 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)