E52K (p.Glu52Lys) variant of PRKAR1A (P10644)
E52K (p.Glu52Lys) 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 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
E52K (p.Glu52Lys) variant details
- p.Glu52Lys
- rs2143153410
- ClinGen CA400752080
- ClinVar RCV001361973
- ClinVar RCV002404854
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Carney complex, type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.735
- CADD 24.10
- PolyPhen-2 0.07
- SIFT 0.09
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Carney complex, type 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-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)