R51G (p.Arg51Gly) variant of PRKAR1A (P10644)
R51G (p.Arg51Gly) 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; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
R51G (p.Arg51Gly) variant details
- p.Arg51Gly
- rs967277610
- ClinGen CA293327658
- ClinVar RCV000695293
- ClinVar RCV001011959
- Uncertain significance
- Carney complex, type 1; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.465
- CADD 23.80
- PolyPhen-2 0.67
- SIFT 0.02
- ClinVar: Uncertain significance (Carney complex, type 1; Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-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)