I27M (p.Ile27Met) variant of PRKAR1A (P10644)
I27M (p.Ile27Met) 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 0.71 / 1. The record also includes published literature and structural context.
I27M (p.Ile27Met) variant details
- p.Ile27Met
- rs1235317386
- ClinGen CA400751929
- ClinVar RCV000575969
- ClinVar RCV001853793
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Carney complex, type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.706
- AlphaMissense 0.63
- MetaLR 0.68
- MetaSVM 0.39
- PolyPhen-2 0.99
- SIFT 0.00
- MutPred 0.63
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Carney complex, type 1)
- EBI: Likely benign
- UniProt: Likely benign
- 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)