L20I (p.Leu20Ile) variant of PRKAR1A (P10644)
L20I (p.Leu20Ile) 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 record also includes published literature and structural context.
L20I (p.Leu20Ile) variant details
- p.Leu20Ile
- rs2509357857
- ClinGen CA400751879
- ClinVar RCV003515565
- ClinVar RCV004368994
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Carney complex, type 1
- Missense
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Carney complex, type 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)