R16G (p.Arg16Gly) variant of PRKAR1A (P10644)
R16G (p.Arg16Gly) 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 provided; Carney complex, type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
R16G (p.Arg16Gly) variant details
- p.Arg16Gly
- rs886041228
- ClinGen CA400751851
- ClinVar RCV003091914
- ClinVar RCV003294497
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided; Carney complex, type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.641
- AlphaMissense 0.26
- MetaLR 0.46
- MetaSVM -0.07
- CADD 23.50
- PolyPhen-2 0.35
- SIFT 0.01
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; not provided; Carney co)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.5e-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)