C99R (p.Cys99Arg) variant of BMPR2 (Q13873)
C99R (p.Cys99Arg) in BMPR2 (Q13873) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Primary pulmonary hypertension; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
C99R (p.Cys99Arg) variant details
- p.Cys99Arg
- rs863223425
- ClinGen CA320754
- ClinVar RCV000196343
- ClinVar RCV000488549
- Conflicting interpretations
- Primary pulmonary hypertension; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.822
- REVEL 0.94
- CADD 28.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Primary pulmonary hypertension; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Heritable Pulmonary Arterial Hypertension Overview. (PMID 20301658)