K43M (p.Lys43Met) variant of BMPR1A (P36894)
K43M (p.Lys43Met) in BMPR1A (P36894) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.
K43M (p.Lys43Met) variant details
- p.Lys43Met
- rs2539431097
- ClinGen CA2580082076
- ClinVar RCV002376529
- ClinVar RCV003458860
- Pathogenic
- Missense
- EBI: Pathogenic
- UniProt: 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)
- Cited in: Juvenile Polyposis Syndrome. (PMID 20301642)