R13H (p.Arg13His) variant of PRKAR1A (P10644)
R13H (p.Arg13His) 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; not provided; Carney complex, type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
R13H (p.Arg13His) variant details
- p.Arg13His
- rs2143149544
- ClinGen CA400751835
- NCI-TCGA Cosmic COSV6223
- cosmic curated COSV62235
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided; Carney complex, type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.739
- CADD 24.30
- PolyPhen-2 0.17
- SIFT 0.03
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; not provided; Carney co)
- 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)