R13C (p.Arg13Cys) variant of PRKAR1A (P10644)
R13C (p.Arg13Cys) in PRKAR1A (P10644) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Acrodysostosis 1 with or without hormone resistance; Hereditary cancer-predispos. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
R13C (p.Arg13Cys) variant details
- p.Arg13Cys
- rs1177674637
- ClinGen CA400751832
- ClinVar RCV001225158
- ClinVar RCV002356956
- Uncertain significance
- Acrodysostosis 1 with or without hormone resistance; Hereditary cancer-predispos
- Missense
- Variant Prioritization Score for Impact Estimate 0.662
- CADD 24.80
- PolyPhen-2 0.46
- SIFT 0.01
- ClinVar: Uncertain significance (Acrodysostosis 1 with or without hormone resistance; Hereditary)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-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)