S9R (p.Ser9Arg) variant of PRKAR1A (P10644)
S9R (p.Ser9Arg) in PRKAR1A (P10644) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; Hereditary cancer-predisposing syndrome; Carney complex, type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
S9R (p.Ser9Arg) variant details
- p.Ser9Arg
- rs745391692
- ClinGen CA8729142
- ClinVar RCV000781768
- ClinVar RCV001016643
- Uncertain significance
- not specified; Hereditary cancer-predisposing syndrome; Carney complex, type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.286
- CADD 15.40
- PolyPhen-2 0.04
- SIFT 0.23
- ClinVar: Uncertain significance (not specified; Hereditary cancer-predisposing syndrome; Carney c)
- EBI: Variant of uncertain significance (in CNC1)
- UniProt: Uncertain significance (in CNC1)
- Most common in the REMAINING population (allele frequency 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)