S5R (p.Ser5Arg) variant of PRKAR1A (P10644)
S5R (p.Ser5Arg) 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; Carney complex, type 1; Acrodysostosis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
S5R (p.Ser5Arg) variant details
- p.Ser5Arg
- rs1600461789
- ClinGen CA400751779
- ClinVar RCV000797705
- ClinVar RCV004569551
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Carney complex, type 1; Acrodysostosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.436
- CADD 22.50
- PolyPhen-2 0.04
- SIFT 0.07
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Carney complex, type 1;)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- 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)