E2Q (p.Glu2Gln) variant of PRKAR1A (P10644)
E2Q (p.Glu2Gln) in PRKAR1A (P10644) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Carney complex, type 1; Hereditary cancer-predisposing syndrome. 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.
E2Q (p.Glu2Gln) variant details
- p.Glu2Gln
- rs1600461762
- ClinGen CA400751761
- ClinVar RCV000804490
- ClinVar RCV004944176
- Uncertain significance
- Carney complex, type 1; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.73
- CADD 23.90
- PolyPhen-2 0.06
- SIFT 0.01
- ClinVar: Uncertain significance (Carney complex, type 1; Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-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)