M47L (p.Met47Leu) variant of PRKAR1A (P10644)
M47L (p.Met47Leu) 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 0.35 / 1. The record also includes published literature and structural context.
M47L (p.Met47Leu) variant details
- p.Met47Leu
- rs548529083
- ClinGen CA400752047
- ClinVar RCV001305431
- TOPMed rs548529083
- Uncertain significance
- Carney complex, type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.346
- AlphaMissense 0.15
- MetaLR 0.17
- MetaSVM -0.90
- PolyPhen-2 0.00
- SIFT 0.48
- MutPred 0.56
- ClinVar: Uncertain significance (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)