W13* (p.Trp13Ter) variant of BMPR2 (Q13873)
W13* (p.Trp13Ter) 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 0.44 / 1. The record also includes published literature and structural context.
W13* (p.Trp13Ter) variant details
- p.Trp13Ter
- rs1085307152
- ClinGen CA350396653
- cosmic curated COSV10891
- ClinVar RCV000488586
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.44
- AlphaMissense 0.13
- MetaLR 0.52
- MetaSVM -0.63
- PolyPhen-2 0.07
- SIFT 0.01
- MutPred 0.61
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Heritable Pulmonary Arterial Hypertension Overview. (PMID 20301658)