E31* (p.Glu31Ter) variant of BMPR2 (Q13873)
E31* (p.Glu31Ter) 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 0.63 / 1. The record also includes published literature and structural context.
E31* (p.Glu31Ter) variant details
- p.Glu31Ter
- rs1085307162
- ClinGen CA350399005
- NCI-TCGA Cosmic COSV1010
- ClinVar RCV000488591
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.632
- AlphaMissense 0.22
- MetaLR 0.86
- MetaSVM 0.65
- PolyPhen-2 0.13
- SIFT 0.01
- EVE 0.44
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Heritable Pulmonary Arterial Hypertension Overview. (PMID 20301658)