R10Q (p.Arg10Gln) variant of BMPR2 (Q13873)
R10Q (p.Arg10Gln) in BMPR2 (Q13873) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Primary pulmonary hypertension; Inborn genetic diseases. 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.
R10Q (p.Arg10Gln) variant details
- p.Arg10Gln
- rs761823322
- ClinGen CA2060998
- ClinVar RCV003596767
- ClinVar RCV004369205
- Conflicting interpretations
- Primary pulmonary hypertension; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.251
- REVEL 0.12
- CADD 22.10
- PolyPhen-2 0.03
- SIFT 0.61
- ClinVar: Conflicting classifications of pathogenicity (Primary pulmonary hypertension; Inborn genetic diseases)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 5.9e-05)
- Structural context available
- Cited in: CEBPA-Associated Familial Acute Myeloid Leukemia (AML). (PMID 20963938)
- Cited in: NCCN Task Force report: Evaluating the clinical utility of tumor markers in oncology. (PMID 22138009)