E11D (p.Glu11Asp) variant of PRKAR1A (P10644)
E11D (p.Glu11Asp) 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; Carney complex, type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
E11D (p.Glu11Asp) variant details
- p.Glu11Asp
- rs2085400700
- ClinGen CA400751824
- ClinVar RCV001297977
- ClinVar RCV003294212
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Carney complex, type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.452
- CADD 17.00
- PolyPhen-2 0.02
- SIFT 0.10
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Carney complex, type 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-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)