R899P (p.Arg899Pro) variant of BMPR2 (Q13873)
R899P (p.Arg899Pro) in BMPR2 (Q13873) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Pulmonary hypertension, primary, 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
R899P (p.Arg899Pro) variant details
- p.Arg899Pro
- rs137852752
- ClinGen CA278098
- ClinVar RCV000009356
- UniProt VAR 033111
- Pathogenic
- Pulmonary hypertension, primary, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.74
- REVEL 0.71
- CADD 25.40
- PolyPhen-2 0.94
- SIFT 0.19
- ClinVar: Pathogenic (Pulmonary hypertension, primary, 1)
- EBI: Pathogenic (in PPH1)
- UniProt: Pathogenic (in PPH1)
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-05)
- Structural context available
- Cited in: BMPR2 mutations have short lifetime expectancy in primary pulmonary hypertension. (PMID 15965979)
- Cited in: Heritable Pulmonary Arterial Hypertension Overview. (PMID 20301658)