Y67C (p.Tyr67Cys) variant of BMPR2 (Q13873)
Y67C (p.Tyr67Cys) in BMPR2 (Q13873) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Primary pulmonary hypertension; Pulmonary hypertension, primary, 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
Y67C (p.Tyr67Cys) variant details
- p.Tyr67Cys
- rs1085307177
- ClinGen CA350399384
- cosmic curated COSV10100
- ClinVar RCV000488664
- Pathogenic
- Primary pulmonary hypertension; Pulmonary hypertension, primary, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.78
- REVEL 0.89
- CADD 24.80
- PolyPhen-2 0.96
- SIFT 0.00
- ClinVar: Pathogenic (Primary pulmonary hypertension; Pulmonary hypertension, primary,)
- EBI: Pathogenic (in PPH1)
- UniProt: Pathogenic (in PPH1)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Functional changes in pulmonary arterial endothelial cells associated with BMPR2 mutations. (PMID 25187962)
- Cited in: Heritable Pulmonary Arterial Hypertension Overview. (PMID 20301658)