M1I (p.Met1Ile) variant of PRKAR1A (P10644)
M1I (p.Met1Ile) in PRKAR1A (P10644) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Hereditary cancer-predisposing syndrome. The record also includes published literature and structural context.
M1I (p.Met1Ile) variant details
- p.Met1Ile
- rs2509357138
- ClinGen CA400751757
- ClinVar RCV004516153
- Likely pathogenic
- Hereditary cancer-predisposing syndrome
- Missense
- ClinVar: Likely pathogenic (Hereditary cancer-predisposing syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)