R42Q (p.Arg42Gln) variant of PRKAR1A (P10644)
R42Q (p.Arg42Gln) 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; Carney complex, type 1; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
R42Q (p.Arg42Gln) variant details
- p.Arg42Gln
- rs746486900
- ClinGen CA8729162
- ClinVar RCV000818686
- ClinVar RCV002427034
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Carney complex, type 1; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.717
- CADD 21.90
- PolyPhen-2 0.07
- SIFT 0.11
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Carney complex, type 1;)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- 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)