C420Y (p.Cys420Tyr) variant of BMPR2 (Q13873)
C420Y (p.Cys420Tyr) in BMPR2 (Q13873) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Pulmonary arterial hypertension. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes published literature and structural context.
C420Y (p.Cys420Tyr) variant details
- p.Cys420Tyr
- rs1085307325
- ClinGen CA350341979
- NCI-TCGA Cosmic COSV1010
- cosmic curated COSV10100
- Likely pathogenic
- Pulmonary arterial hypertension
- Missense
- Variant Prioritization Score for Impact Estimate 0.868
- AlphaMissense 0.99
- MetaLR 0.89
- MetaSVM 0.97
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.67
- ClinVar: Likely pathogenic (Pulmonary arterial hypertension)
- EBI: Pathogenic (in PPH1)
- UniProt: Pathogenic (in PPH1)
- Structural context available
- Cited in: Heritable Pulmonary Arterial Hypertension Overview. (PMID 20301658)