I58V (p.Ile58Val) variant of BMPR2 (Q13873)
I58V (p.Ile58Val) in BMPR2 (Q13873) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Pulmonary hypertension, primary, 1; Pulmonary venoocclusive disease 1; Inborn ge. The record also includes structural context.
I58V (p.Ile58Val) variant details
- p.Ile58Val
- TOPMed rs1692289613
- Uncertain significance
- Pulmonary hypertension, primary, 1; Pulmonary venoocclusive disease 1; Inborn ge
- Missense
- ClinVar: Uncertain significance (Pulmonary hypertension, primary, 1; Pulmonary venoocclusive dise)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available