R303H (p.Arg303His) variant of BMPR2 (Q13873)
R303H (p.Arg303His) 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 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
R303H (p.Arg303His) variant details
- p.Arg303His
- rs200948870
- ClinGen CA2061247
- cosmic curated COSV65813
- ClinVar RCV000488504
- Likely pathogenic
- Pulmonary arterial hypertension
- Missense
- Variant Prioritization Score for Impact Estimate 0.629
- REVEL 0.50
- CADD 29.30
- PolyPhen-2 0.90
- SIFT 0.01
- ClinVar: Likely pathogenic (Pulmonary arterial hypertension)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the 1KG:CEU population (allele frequency 0.0042)
- Structural context available
- Cited in: Heritable Pulmonary Arterial Hypertension Overview. (PMID 20301658)