D269G (p.Asp269Gly) variant of PRKAR1A (P10644)
D269G (p.Asp269Gly) in PRKAR1A (P10644) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Carney complex, type 1; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes published literature and structural context.
D269G (p.Asp269Gly) variant details
- p.Asp269Gly
- rs1085307672
- ClinGen CA400753859
- ClinVar RCV000489158
- ClinVar RCV005091000
- Pathogenic
- Carney complex, type 1; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.729
- AlphaMissense 0.99
- MetaLR 0.66
- MetaSVM 0.59
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.70
- ClinVar: Pathogenic (Carney complex, type 1; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- 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)