C116R (p.Cys116Arg) variant of BMPR2 (Q13873)
C116R (p.Cys116Arg) in BMPR2 (Q13873) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Pulmonary arterial hypertension. The available variant effect predictions contribute to a CATVariant prioritization score of 0.94 / 1. The record also includes structural context.
C116R (p.Cys116Arg) variant details
- p.Cys116Arg
- rs1574464160
- ClinGen CA350399721
- ClinVar RCV001003663
- Ensembl rs1574464160
- Pathogenic
- Pulmonary arterial hypertension
- Missense
- Variant Prioritization Score for Impact Estimate 0.942
- AlphaMissense 1.00
- MetaLR 1.00
- MetaSVM 0.88
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.85
- ClinVar: Pathogenic (Pulmonary arterial hypertension)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available