R10W (p.Arg10Trp) variant of BMPR2 (Q13873)
R10W (p.Arg10Trp) 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 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
R10W (p.Arg10Trp) variant details
- p.Arg10Trp
- rs1085307150
- ClinGen CA350396613
- ClinVar RCV000488679
- gnomAD rs1085307150
- Pathogenic
- Pulmonary hypertension, primary, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.252
- REVEL 0.17
- CADD 23.70
- PolyPhen-2 0.18
- SIFT 0.03
- ClinVar: Pathogenic (Pulmonary hypertension, primary, 1)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Heritable Pulmonary Arterial Hypertension Overview. (PMID 20301658)