L15I (p.Leu15Ile) variant of PRKAR1A (P10644)
L15I (p.Leu15Ile) 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; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes published literature and structural context.
L15I (p.Leu15Ile) variant details
- p.Leu15Ile
- rs2143149707
- ClinGen CA400751845
- ClinVar RCV001367352
- ClinVar RCV003298596
- Uncertain significance
- Carney complex, type 1; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.461
- AlphaMissense 0.17
- MetaLR 0.44
- MetaSVM -0.07
- PolyPhen-2 0.55
- SIFT 0.05
- MutPred 0.33
- ClinVar: Uncertain significance (Carney complex, type 1; Hereditary cancer-predisposing syndrome)
- 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)