K24R (p.Lys24Arg) variant of PRKAR1A (P10644)
K24R (p.Lys24Arg) 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; Hereditary cancer-predispos. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
K24R (p.Lys24Arg) variant details
- p.Lys24Arg
- rs763158372
- ClinGen CA8729151
- ClinVar RCV000466415
- ClinVar RCV001026146
- Uncertain significance
- Acrodysostosis 1 with or without hormone resistance; Hereditary cancer-predispos
- Missense
- Variant Prioritization Score for Impact Estimate 0.595
- CADD 22.80
- PolyPhen-2 0.00
- SIFT 0.43
- ClinVar: Uncertain significance (Acrodysostosis 1 with or without hormone resistance; Hereditary)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-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)