L59* (p.Leu59Ter) variant of BMPR1A (P36894)

Name: BMPR1A L59* (p.Leu59Ter) variant | CATVariant
Creator: Center for Precision Medicine and Data Sciences
Published: 2026-08-21
License: https://catvariant.com/terms-of-use

L59* (p.Leu59Ter) in BMPR1A (P36894) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.

L59* (p.Leu59Ter) variant details

p.Leu59Ter
rs1564714834
ClinGen CA377446894
ClinVar RCV000755041
ClinVar RCV001013096
Pathogenic
Stop Gained
EBI: Pathogenic
UniProt: Pathogenic
Structural context available
Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)
Cited in: Juvenile Polyposis Syndrome. (PMID 20301642)