E17D (p.Glu17Asp) variant of PRKAR1A (P10644)
E17D (p.Glu17Asp) in PRKAR1A (P10644) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; Hereditary cancer-predisposing syndrome; Carney complex, type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
E17D (p.Glu17Asp) variant details
- p.Glu17Asp
- rs771518581
- ClinGen CA8729143
- cosmic curated COSV10969
- ClinVar RCV001023706
- Uncertain significance
- not specified; Hereditary cancer-predisposing syndrome; Carney complex, type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.215
- CADD 18.80
- PolyPhen-2 0.69
- SIFT 0.16
- ClinVar: Uncertain significance (not specified; Hereditary cancer-predisposing syndrome; Carney c)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-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)