K32E (p.Lys32Glu) variant of PRKAR1A (P10644)
K32E (p.Lys32Glu) in PRKAR1A (P10644) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Acrodysostosis 1 with or without hormone resistance; Carney complex, type 1; Her. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
K32E (p.Lys32Glu) variant details
- p.Lys32Glu
- rs756985434
- ClinGen CA8729157
- ClinVar RCV000556130
- ClinVar RCV002377115
- Uncertain significance
- Acrodysostosis 1 with or without hormone resistance; Carney complex, type 1; Her
- Missense
- Variant Prioritization Score for Impact Estimate 0.666
- CADD 29.00
- PolyPhen-2 0.98
- SIFT 0.02
- ClinVar: Uncertain significance (Acrodysostosis 1 with or without hormone resistance; Carney comp)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian 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)