R45K (p.Arg45Lys) variant of PRKAR1A (P10644)
R45K (p.Arg45Lys) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes published literature and structural context.
R45K (p.Arg45Lys) variant details
- p.Arg45Lys
- rs2143152864
- ClinGen CA400752035
- ClinVar RCV002387917
- ClinVar RCV003120992
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Carney complex, type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.392
- AlphaMissense 0.11
- MetaLR 0.36
- MetaSVM -0.55
- PolyPhen-2 0.00
- SIFT 0.18
- MutPred 0.51
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Carney complex, type 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)