R491W (p.Arg491Trp) variant of BMPR2 (Q13873)
R491W (p.Arg491Trp) in BMPR2 (Q13873) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Primary pulmonary hypertension; not provided; Pulmonary hypertension, primary, 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.98 / 1. The record also includes published literature and structural context.
R491W (p.Arg491Trp) variant details
- p.Arg491Trp
- rs137852746
- ClinGen CA278081
- NCI-TCGA Cosmic COSV6580
- cosmic curated COSV65808
- Pathogenic
- Primary pulmonary hypertension; not provided; Pulmonary hypertension, primary, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.977
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 0.99
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.95
- ClinVar: Pathogenic (Primary pulmonary hypertension; not provided; Pulmonary hyperten)
- EBI: Pathogenic (in PPH1)
- UniProt: Pathogenic (in PPH1)
- 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)