R491Q (p.Arg491Gln) variant of BMPR2 (Q13873)
R491Q (p.Arg491Gln) 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 0.93 / 1. The record also includes population frequency data, published literature, and structural context.
R491Q (p.Arg491Gln) variant details
- p.Arg491Gln
- rs137852749
- ClinGen CA278089
- cosmic curated COSV65808
- ClinVar RCV000009351
- Pathogenic
- Pulmonary arterial hypertension
- Missense
- Variant Prioritization Score for Impact Estimate 0.928
- REVEL 0.96
- AlphaMissense 0.99
- MetaLR 0.99
- MetaSVM 0.99
- CADD 32.00
- PolyPhen-2 1.00
- ClinVar: Pathogenic (Pulmonary arterial hypertension)
- EBI: Pathogenic (in PPH1)
- UniProt: Pathogenic (in PPH1)
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Cited in: Familial primary pulmonary hypertension (gene PPH1) is caused by mutations in the bone morphogenetic protein… (PMID 10903931)
- Cited in: Functional analysis of bone morphogenetic protein type II receptor mutations underlying primary pulmonary hypertension. (PMID 12045205)