L20R (p.Leu20Arg) variant of PRKAR1A (P10644)
L20R (p.Leu20Arg) 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 0.37 / 1. The record also includes published literature and structural context.
L20R (p.Leu20Arg) variant details
- p.Leu20Arg
- rs1600461989
- ClinGen CA400751882
- ClinVar RCV001024779
- ClinVar RCV005253682
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Carney complex, type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.369
- AlphaMissense 0.10
- MetaLR 0.23
- MetaSVM -0.81
- PolyPhen-2 0.00
- SIFT 0.53
- MutPred 0.41
- 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)