E44G (p.Glu44Gly) variant of PRKAR1A (P10644)
E44G (p.Glu44Gly) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
E44G (p.Glu44Gly) variant details
- p.Glu44Gly
- rs2085406021
- ClinGen CA400752028
- ClinVar RCV003627509
- Ensembl rs2085406021
- Uncertain significance
- Carney complex, type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.617
- CADD 25.50
- PolyPhen-2 0.28
- SIFT 0.01
- ClinVar: Uncertain significance (Carney complex, type 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 8.1e-06)
- 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)