I46L (p.Ile46Leu) variant of BMPR2 (Q13873)
I46L (p.Ile46Leu) in BMPR2 (Q13873) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Primary pulmonary hypertension. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
I46L (p.Ile46Leu) variant details
- p.Ile46Leu
- cosmic curated COSV10748
- ExAC rs759804753
- TOPMed rs759804753
- gnomAD rs759804753
- Likely benign
- Primary pulmonary hypertension
- Missense
- Variant Prioritization Score for Impact Estimate 0.436
- REVEL 0.32
- CADD 22.00
- PolyPhen-2 0.00
- SIFT 0.39
- ClinVar: Likely benign (Primary pulmonary hypertension)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available