S9G (p.Ser9Gly) variant of PRKAR1A (P10644)
S9G (p.Ser9Gly) in PRKAR1A (P10644) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Familial atrial myxoma; Pigmented nodular adrenocortical disease, primary, 1; Ca. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
S9G (p.Ser9Gly) variant details
- p.Ser9Gly
- rs778468626
- ClinGen CA400751805
- ClinVar RCV000791638
- ClinVar RCV002249500
- Uncertain significance
- Familial atrial myxoma; Pigmented nodular adrenocortical disease, primary, 1; Ca
- Missense
- Variant Prioritization Score for Impact Estimate 0.278
- CADD 14.40
- PolyPhen-2 0.00
- SIFT 0.27
- ClinVar: Uncertain significance (Familial atrial myxoma; Pigmented nodular adrenocortical disease)
- EBI: Variant of uncertain significance (in CNC1)
- UniProt: Uncertain significance (in CNC1)
- Most common in the Middle Eastern population (allele frequency 0.00019)
- 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)