S34C (p.Ser34Cys) variant of PRKAR1A (P10644)
S34C (p.Ser34Cys) 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; Acrodysostosis 1 with or without hormon. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
S34C (p.Ser34Cys) variant details
- p.Ser34Cys
- rs944887425
- ClinGen CA293327597
- ClinVar RCV000704942
- ClinVar RCV001009718
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Acrodysostosis 1 with or without hormon
- Missense
- Variant Prioritization Score for Impact Estimate 0.708
- CADD 19.80
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Acrodysostosis 1 with o)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 3.3e-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)