W16* (p.Trp16Ter) variant of BMPR2 (Q13873)
W16* (p.Trp16Ter) in BMPR2 (Q13873) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.
W16* (p.Trp16Ter) variant details
- p.Trp16Ter
- rs1085307154
- ClinGen CA350396691
- NCI-TCGA Cosmic COSV6580
- cosmic curated COSV65809
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Heritable Pulmonary Arterial Hypertension Overview. (PMID 20301658)