W9* (p.Trp9Ter) variant of BMPR2 (Q13873)
W9* (p.Trp9Ter) in BMPR2 (Q13873) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes published literature and structural context.
W9* (p.Trp9Ter) variant details
- p.Trp9Ter
- rs1085307149
- ClinGen CA350396608
- NCI-TCGA Cosmic COSV6581
- cosmic curated COSV65812
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.476
- AlphaMissense 0.17
- MetaLR 0.50
- MetaSVM -0.71
- PolyPhen-2 0.21
- SIFT 0.32
- MutPred 0.35
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Heritable Pulmonary Arterial Hypertension Overview. (PMID 20301658)