C94R (p.Cys94Arg) variant of BMPR2 (Q13873)
C94R (p.Cys94Arg) 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; Pulmonary hypertension, primary, 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.94 / 1. The record also includes published literature and structural context.
C94R (p.Cys94Arg) variant details
- p.Cys94Arg
- rs1085307203
- ClinGen CA350399577
- ClinVar RCV000488733
- ClinVar RCV001003658
- Pathogenic
- Pulmonary arterial hypertension; Pulmonary hypertension, primary, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.94
- AlphaMissense 0.97
- MetaLR 0.97
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.87
- ClinVar: Pathogenic (Pulmonary arterial hypertension; Pulmonary hypertension, primary)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Heritable Pulmonary Arterial Hypertension Overview. (PMID 20301658)